SNP Links for Protein (Select 817474264) - SNP

Links from Protein

Items: 1 to 20 of 596

<< First< Prev

Page of 30

Next >Last >>

Select item 14905986011.

rs1490598601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41719971 (GRCh38)
19:42223890 (GRCh37)
Canonical SPDI:: NC_000019.10:41719970:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41719971C>T, NW_004775434.1:g.289010C>T, NC_000019.9:g.42223890C>T, NM_004363.6:c.1534C>T, NM_004363.5:c.1534C>T, NM_004363.4:c.1534C>T, NM_004363.3:c.1534C>T, NM_004363.2:c.1534C>T, XM_017026145.3:c.1531C>T, XM_017026145.2:c.1531C>T, XM_017026145.1:c.1531C>T, NM_001291484.3:c.1534C>T, NM_001291484.2:c.1534C>T, NM_001291484.1:c.1534C>T, XM_017026146.3:c.1279C>T, XM_017026146.2:c.1279C>T, XM_017026146.1:c.1279C>T, XM_011526322.3:c.1000C>T, XM_011526322.2:c.1000C>T, XM_011526322.1:c.1000C>T, NM_001308398.2:c.1531C>T, NM_001308398.1:c.1531C>T, NP_004354.3:p.Pro512Ser, XP_016881634.1:p.Pro511Ser, NP_001278413.1:p.Pro512Ser, XP_016881635.1:p.Pro427Ser, XP_011524624.1:p.Pro334Ser, NP_001295327.1:p.Pro511Ser

Select item 14902940942.

rs1490294094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:41709913 (GRCh38)
19:42213832 (GRCh37)
Canonical SPDI:: NC_000019.10:41709912:A:G,NC_000019.10:41709912:A:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41709913A>G, NC_000019.10:g.41709913A>T, NW_004775434.1:g.278952A>G, NW_004775434.1:g.278952A>T, NC_000019.9:g.42213832A>G, NC_000019.9:g.42213832A>T, NM_004363.6:c.298A>G, NM_004363.6:c.298A>T, NM_004363.5:c.298A>G, NM_004363.5:c.298A>T, NM_004363.4:c.298A>G, NM_004363.4:c.298A>T, NM_004363.3:c.298A>G, NM_004363.3:c.298A>T, NM_004363.2:c.298A>G, NM_004363.2:c.298A>T, XM_017026145.3:c.298A>G, XM_017026145.3:c.298A>T, XM_017026145.2:c.298A>G, XM_017026145.2:c.298A>T, XM_017026145.1:c.298A>G, XM_017026145.1:c.298A>T, NM_001291484.3:c.298A>G, NM_001291484.3:c.298A>T, NM_001291484.2:c.298A>G, NM_001291484.2:c.298A>T, NM_001291484.1:c.298A>G, NM_001291484.1:c.298A>T, XM_017026146.3:c.298A>G, XM_017026146.3:c.298A>T, XM_017026146.2:c.298A>G, XM_017026146.2:c.298A>T, XM_017026146.1:c.298A>G, XM_017026146.1:c.298A>T, XM_011526322.3:c.298A>G, XM_011526322.3:c.298A>T, XM_011526322.2:c.298A>G, XM_011526322.2:c.298A>T, XM_011526322.1:c.298A>G, XM_011526322.1:c.298A>T, NM_001308398.2:c.298A>G, NM_001308398.2:c.298A>T, NM_001308398.1:c.298A>G, NM_001308398.1:c.298A>T, NP_004354.3:p.Ile100Val, NP_004354.3:p.Ile100Leu, XP_016881634.1:p.Ile100Val, XP_016881634.1:p.Ile100Leu, NP_001278413.1:p.Ile100Val, NP_001278413.1:p.Ile100Leu, XP_016881635.1:p.Ile100Val, XP_016881635.1:p.Ile100Leu, XP_011524624.1:p.Ile100Val, XP_011524624.1:p.Ile100Leu, NP_001295327.1:p.Ile100Val, NP_001295327.1:p.Ile100Leu

Select item 14866842733.

rs1486684273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41715177 (GRCh38)
19:42219096 (GRCh37)
Canonical SPDI:: NC_000019.10:41715176:G:A
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41715177G>A, NW_004775434.1:g.284216G>A, NC_000019.9:g.42219096G>A, NM_004363.6:c.631G>A, NM_004363.5:c.631G>A, NM_004363.4:c.631G>A, NM_004363.3:c.631G>A, NM_004363.2:c.631G>A, XM_017026145.3:c.631G>A, XM_017026145.2:c.631G>A, XM_017026145.1:c.631G>A, NM_001291484.3:c.631G>A, NM_001291484.2:c.631G>A, NM_001291484.1:c.631G>A, XM_017026146.3:c.631G>A, XM_017026146.2:c.631G>A, XM_017026146.1:c.631G>A, XM_011526322.3:c.631G>A, XM_011526322.2:c.631G>A, XM_011526322.1:c.631G>A, NM_001308398.2:c.631G>A, NM_001308398.1:c.631G>A, NP_004354.3:p.Ala211Thr, XP_016881634.1:p.Ala211Thr, NP_001278413.1:p.Ala211Thr, XP_016881635.1:p.Ala211Thr, XP_011524624.1:p.Ala211Thr, NP_001295327.1:p.Ala211Thr

Select item 14837813224.

rs1483781322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41717522 (GRCh38)
19:42221441 (GRCh37)
Canonical SPDI:: NC_000019.10:41717521:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41717522C>T, NW_004775434.1:g.286561C>T, NC_000019.9:g.42221441C>T, NM_004363.6:c.1026C>T, NM_004363.5:c.1026C>T, NM_004363.4:c.1026C>T, NM_004363.3:c.1026C>T, NM_004363.2:c.1026C>T, XM_017026145.3:c.1023C>T, XM_017026145.2:c.1023C>T, XM_017026145.1:c.1023C>T, NM_001291484.3:c.1026C>T, NM_001291484.2:c.1026C>T, NM_001291484.1:c.1026C>T, XM_017026146.3:c.771C>T, XM_017026146.2:c.771C>T, XM_017026146.1:c.771C>T, NM_001308398.2:c.1023C>T, NM_001308398.1:c.1023C>T

Select item 14826498115.

rs1482649811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:41715172 (GRCh38)
19:42219091 (GRCh37)
Canonical SPDI:: NC_000019.10:41715171:A:G,NC_000019.10:41715171:A:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41715172A>G, NC_000019.10:g.41715172A>T, NW_004775434.1:g.284211A>G, NW_004775434.1:g.284211A>T, NC_000019.9:g.42219091A>G, NC_000019.9:g.42219091A>T, NM_004363.6:c.626A>G, NM_004363.6:c.626A>T, NM_004363.5:c.626A>G, NM_004363.5:c.626A>T, NM_004363.4:c.626A>G, NM_004363.4:c.626A>T, NM_004363.3:c.626A>G, NM_004363.3:c.626A>T, NM_004363.2:c.626A>G, NM_004363.2:c.626A>T, XM_017026145.3:c.626A>G, XM_017026145.3:c.626A>T, XM_017026145.2:c.626A>G, XM_017026145.2:c.626A>T, XM_017026145.1:c.626A>G, XM_017026145.1:c.626A>T, NM_001291484.3:c.626A>G, NM_001291484.3:c.626A>T, NM_001291484.2:c.626A>G, NM_001291484.2:c.626A>T, NM_001291484.1:c.626A>G, NM_001291484.1:c.626A>T, XM_017026146.3:c.626A>G, XM_017026146.3:c.626A>T, XM_017026146.2:c.626A>G, XM_017026146.2:c.626A>T, XM_017026146.1:c.626A>G, XM_017026146.1:c.626A>T, XM_011526322.3:c.626A>G, XM_011526322.3:c.626A>T, XM_011526322.2:c.626A>G, XM_011526322.2:c.626A>T, XM_011526322.1:c.626A>G, XM_011526322.1:c.626A>T, NM_001308398.2:c.626A>G, NM_001308398.2:c.626A>T, NM_001308398.1:c.626A>G, NM_001308398.1:c.626A>T, NP_004354.3:p.Asp209Gly, NP_004354.3:p.Asp209Val, XP_016881634.1:p.Asp209Gly, XP_016881634.1:p.Asp209Val, NP_001278413.1:p.Asp209Gly, NP_001278413.1:p.Asp209Val, XP_016881635.1:p.Asp209Gly, XP_016881635.1:p.Asp209Val, XP_011524624.1:p.Asp209Gly, XP_011524624.1:p.Asp209Val, NP_001295327.1:p.Asp209Gly, NP_001295327.1:p.Asp209Val

Select item 14803799796.

rs1480379979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:41709965 (GRCh38)
19:42213884 (GRCh37)
Canonical SPDI:: NC_000019.10:41709964:C:A
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41709965C>A, NW_004775434.1:g.279004C>A, NC_000019.9:g.42213884C>A, NM_004363.6:c.350C>A, NM_004363.5:c.350C>A, NM_004363.4:c.350C>A, NM_004363.3:c.350C>A, NM_004363.2:c.350C>A, XM_017026145.3:c.350C>A, XM_017026145.2:c.350C>A, XM_017026145.1:c.350C>A, NM_001291484.3:c.350C>A, NM_001291484.2:c.350C>A, NM_001291484.1:c.350C>A, XM_017026146.3:c.350C>A, XM_017026146.2:c.350C>A, XM_017026146.1:c.350C>A, XM_011526322.3:c.350C>A, XM_011526322.2:c.350C>A, XM_011526322.1:c.350C>A, NM_001308398.2:c.350C>A, NM_001308398.1:c.350C>A, NP_004354.3:p.Thr117Lys, XP_016881634.1:p.Thr117Lys, NP_001278413.1:p.Thr117Lys, XP_016881635.1:p.Thr117Lys, XP_011524624.1:p.Thr117Lys, NP_001295327.1:p.Thr117Lys

Select item 14786799207.

rs1478679920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:41709905 (GRCh38)
19:42213824 (GRCh37)
Canonical SPDI:: NC_000019.10:41709904:G:A,NC_000019.10:41709904:G:C
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.41709905G>A, NC_000019.10:g.41709905G>C, NW_004775434.1:g.278944G>A, NW_004775434.1:g.278944G>C, NC_000019.9:g.42213824G>A, NC_000019.9:g.42213824G>C, NM_004363.6:c.290G>A, NM_004363.6:c.290G>C, NM_004363.5:c.290G>A, NM_004363.5:c.290G>C, NM_004363.4:c.290G>A, NM_004363.4:c.290G>C, NM_004363.3:c.290G>A, NM_004363.3:c.290G>C, NM_004363.2:c.290G>A, NM_004363.2:c.290G>C, XM_017026145.3:c.290G>A, XM_017026145.3:c.290G>C, XM_017026145.2:c.290G>A, XM_017026145.2:c.290G>C, XM_017026145.1:c.290G>A, XM_017026145.1:c.290G>C, NM_001291484.3:c.290G>A, NM_001291484.3:c.290G>C, NM_001291484.2:c.290G>A, NM_001291484.2:c.290G>C, NM_001291484.1:c.290G>A, NM_001291484.1:c.290G>C, XM_017026146.3:c.290G>A, XM_017026146.3:c.290G>C, XM_017026146.2:c.290G>A, XM_017026146.2:c.290G>C, XM_017026146.1:c.290G>A, XM_017026146.1:c.290G>C, XM_011526322.3:c.290G>A, XM_011526322.3:c.290G>C, XM_011526322.2:c.290G>A, XM_011526322.2:c.290G>C, XM_011526322.1:c.290G>A, XM_011526322.1:c.290G>C, NM_001308398.2:c.290G>A, NM_001308398.2:c.290G>C, NM_001308398.1:c.290G>A, NM_001308398.1:c.290G>C, NP_004354.3:p.Gly97Asp, NP_004354.3:p.Gly97Ala, XP_016881634.1:p.Gly97Asp, XP_016881634.1:p.Gly97Ala, NP_001278413.1:p.Gly97Asp, NP_001278413.1:p.Gly97Ala, XP_016881635.1:p.Gly97Asp, XP_016881635.1:p.Gly97Ala, XP_011524624.1:p.Gly97Asp, XP_011524624.1:p.Gly97Ala, NP_001295327.1:p.Gly97Asp, NP_001295327.1:p.Gly97Ala

Select item 14784762698.

rs1478476269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41720068 (GRCh38)
19:42223987 (GRCh37)
Canonical SPDI:: NC_000019.10:41720067:G:A
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41720068G>A, NW_004775434.1:g.289107G>A, NC_000019.9:g.42223987G>A, NM_004363.6:c.1631G>A, NM_004363.5:c.1631G>A, NM_004363.4:c.1631G>A, NM_004363.3:c.1631G>A, NM_004363.2:c.1631G>A, XM_017026145.3:c.1628G>A, XM_017026145.2:c.1628G>A, XM_017026145.1:c.1628G>A, NM_001291484.3:c.1631G>A, NM_001291484.2:c.1631G>A, NM_001291484.1:c.1631G>A, XM_017026146.3:c.1376G>A, XM_017026146.2:c.1376G>A, XM_017026146.1:c.1376G>A, XM_011526322.3:c.1097G>A, XM_011526322.2:c.1097G>A, XM_011526322.1:c.1097G>A, NM_001308398.2:c.1628G>A, NM_001308398.1:c.1628G>A, NP_004354.3:p.Ser544Asn, XP_016881634.1:p.Ser543Asn, NP_001278413.1:p.Ser544Asn, XP_016881635.1:p.Ser459Asn, XP_011524624.1:p.Ser366Asn, NP_001295327.1:p.Ser543Asn

Select item 14742052719.

rs1474205271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:41715237 (GRCh38)
19:42219156 (GRCh37)
Canonical SPDI:: NC_000019.10:41715236:C:G,NC_000019.10:41715236:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41715237C>G, NC_000019.10:g.41715237C>T, NW_004775434.1:g.284276C>G, NW_004775434.1:g.284276C>T, NC_000019.9:g.42219156C>G, NC_000019.9:g.42219156C>T, NM_004363.6:c.691C>G, NM_004363.6:c.691C>T, NM_004363.5:c.691C>G, NM_004363.5:c.691C>T, NM_004363.4:c.691C>G, NM_004363.4:c.691C>T, NM_004363.3:c.691C>G, NM_004363.3:c.691C>T, NM_004363.2:c.691C>G, NM_004363.2:c.691C>T, XM_017026145.3:c.691C>G, XM_017026145.3:c.691C>T, XM_017026145.2:c.691C>G, XM_017026145.2:c.691C>T, XM_017026145.1:c.691C>G, XM_017026145.1:c.691C>T, NM_001291484.3:c.691C>G, NM_001291484.3:c.691C>T, NM_001291484.2:c.691C>G, NM_001291484.2:c.691C>T, NM_001291484.1:c.691C>G, NM_001291484.1:c.691C>T, XM_017026146.3:c.691C>G, XM_017026146.3:c.691C>T, XM_017026146.2:c.691C>G, XM_017026146.2:c.691C>T, XM_017026146.1:c.691C>G, XM_017026146.1:c.691C>T, XM_011526322.3:c.691C>G, XM_011526322.3:c.691C>T, XM_011526322.2:c.691C>G, XM_011526322.2:c.691C>T, XM_011526322.1:c.691C>G, XM_011526322.1:c.691C>T, NM_001308398.2:c.691C>G, NM_001308398.2:c.691C>T, NM_001308398.1:c.691C>G, NM_001308398.1:c.691C>T, NP_004354.3:p.Leu231Val, XP_016881634.1:p.Leu231Val, NP_001278413.1:p.Leu231Val, XP_016881635.1:p.Leu231Val, XP_011524624.1:p.Leu231Val, NP_001295327.1:p.Leu231Val

Select item 146729493410.

rs1467294934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41721042 (GRCh38)
19:42224962 (GRCh37)
Canonical SPDI:: NC_000019.10:41721041:G:A
Gene:: CEACAM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41721042G>A, NW_004775434.1:g.290081G>A, NC_000019.9:g.42224962G>A, NM_004363.6:c.1892G>A, NM_004363.5:c.1892G>A, NM_004363.4:c.1892G>A, NM_004363.3:c.1892G>A, NM_004363.2:c.1892G>A, XM_017026145.3:c.1889G>A, XM_017026145.2:c.1889G>A, XM_017026145.1:c.1889G>A, NM_001291484.3:c.1892G>A, NM_001291484.2:c.1892G>A, NM_001291484.1:c.1892G>A, XM_017026146.3:c.1637G>A, XM_017026146.2:c.1637G>A, XM_017026146.1:c.1637G>A, XM_011526322.3:c.1358G>A, XM_011526322.2:c.1358G>A, XM_011526322.1:c.1358G>A, NM_001308398.2:c.1889G>A, NM_001308398.1:c.1889G>A, NP_004354.3:p.Gly631Glu, XP_016881634.1:p.Gly630Glu, NP_001278413.1:p.Gly631Glu, XP_016881635.1:p.Gly546Glu, XP_011524624.1:p.Gly453Glu, NP_001295327.1:p.Gly630Glu

Select item 146328957711.

rs1463289577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41715868 (GRCh38)
19:42219787 (GRCh37)
Canonical SPDI:: NC_000019.10:41715867:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.41715868C>T, NW_004775434.1:g.284907C>T, NC_000019.9:g.42219787C>T, NM_004363.6:c.922C>T, NM_004363.5:c.922C>T, NM_004363.4:c.922C>T, NM_004363.3:c.922C>T, NM_004363.2:c.922C>T, XM_017026145.3:c.922C>T, XM_017026145.2:c.922C>T, XM_017026145.1:c.922C>T, NM_001291484.3:c.922C>T, NM_001291484.2:c.922C>T, NM_001291484.1:c.922C>T, NM_001308398.2:c.922C>T, NM_001308398.1:c.922C>T, NP_004354.3:p.Leu308Phe, XP_016881634.1:p.Leu308Phe, NP_001278413.1:p.Leu308Phe, NP_001295327.1:p.Leu308Phe

Select item 145772587112.

rs1457725871 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:41718177 (GRCh38)
19:42222096 (GRCh37)
Canonical SPDI:: NC_000019.10:41718176:A:
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41718177del, NW_004775434.1:g.287216del, NC_000019.9:g.42222096del, NM_004363.6:c.1287del, NM_004363.5:c.1287del, NM_004363.4:c.1287del, NM_004363.3:c.1287del, NM_004363.2:c.1287del, XM_017026145.3:c.1284del, XM_017026145.2:c.1284del, XM_017026145.1:c.1284del, NM_001291484.3:c.1287del, NM_001291484.2:c.1287del, NM_001291484.1:c.1287del, XM_017026146.3:c.1032del, XM_017026146.2:c.1032del, XM_017026146.1:c.1032del, XM_011526322.3:c.753del, XM_011526322.2:c.753del, XM_011526322.1:c.753del, NM_001308398.2:c.1284del, NM_001308398.1:c.1284del, NP_004354.3:p.Gly430_Val431insTer, XP_016881634.1:p.Gly429_Val430insTer, NP_001278413.1:p.Gly430_Val431insTer, XP_016881635.1:p.Gly345_Val346insTer, XP_011524624.1:p.Gly252_Val253insTer, NP_001295327.1:p.Gly429_Val430insTer

Select item 145436048213.

rs1454360482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41718168 (GRCh38)
19:42222087 (GRCh37)
Canonical SPDI:: NC_000019.10:41718167:T:C
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41718168T>C, NW_004775434.1:g.287207T>C, NC_000019.9:g.42222087T>C, NM_004363.6:c.1278T>C, NM_004363.5:c.1278T>C, NM_004363.4:c.1278T>C, NM_004363.3:c.1278T>C, NM_004363.2:c.1278T>C, XM_017026145.3:c.1275T>C, XM_017026145.2:c.1275T>C, XM_017026145.1:c.1275T>C, NM_001291484.3:c.1278T>C, NM_001291484.2:c.1278T>C, NM_001291484.1:c.1278T>C, XM_017026146.3:c.1023T>C, XM_017026146.2:c.1023T>C, XM_017026146.1:c.1023T>C, XM_011526322.3:c.744T>C, XM_011526322.2:c.744T>C, XM_011526322.1:c.744T>C, NM_001308398.2:c.1275T>C, NM_001308398.1:c.1275T>C

Select item 145414544414.

rs1454145444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:41721169 (GRCh38)
19:42225089 (GRCh37)
Canonical SPDI:: NC_000019.10:41721168:A:C,NC_000019.10:41721168:A:G
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.41721169A>C, NC_000019.10:g.41721169A>G, NW_004775434.1:g.290208A>C, NW_004775434.1:g.290208A>G, NC_000019.9:g.42225089A>C, NC_000019.9:g.42225089A>G, NM_004363.6:c.2019A>C, NM_004363.6:c.2019A>G, NM_004363.5:c.2019A>C, NM_004363.5:c.2019A>G, NM_004363.4:c.2019A>C, NM_004363.4:c.2019A>G, NM_004363.3:c.2019A>C, NM_004363.3:c.2019A>G, NM_004363.2:c.2019A>C, NM_004363.2:c.2019A>G, XM_017026145.3:c.2016A>C, XM_017026145.3:c.2016A>G, XM_017026145.2:c.2016A>C, XM_017026145.2:c.2016A>G, XM_017026145.1:c.2016A>C, XM_017026145.1:c.2016A>G, NM_001291484.3:c.2019A>C, NM_001291484.3:c.2019A>G, NM_001291484.2:c.2019A>C, NM_001291484.2:c.2019A>G, NM_001291484.1:c.2019A>C, NM_001291484.1:c.2019A>G, XM_017026146.3:c.1764A>C, XM_017026146.3:c.1764A>G, XM_017026146.2:c.1764A>C, XM_017026146.2:c.1764A>G, XM_017026146.1:c.1764A>C, XM_017026146.1:c.1764A>G, XM_011526322.3:c.1485A>C, XM_011526322.3:c.1485A>G, XM_011526322.2:c.1485A>C, XM_011526322.2:c.1485A>G, XM_011526322.1:c.1485A>C, XM_011526322.1:c.1485A>G, NM_001308398.2:c.2016A>C, NM_001308398.2:c.2016A>G, NM_001308398.1:c.2016A>C, NM_001308398.1:c.2016A>G

Select item 145143674615.

rs1451436746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:41720087 (GRCh38)
19:42224006 (GRCh37)
Canonical SPDI:: NC_000019.10:41720086:C:A,NC_000019.10:41720086:C:G
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.41720087C>A, NC_000019.10:g.41720087C>G, NW_004775434.1:g.289126C>A, NW_004775434.1:g.289126C>G, NC_000019.9:g.42224006C>A, NC_000019.9:g.42224006C>G, NM_004363.6:c.1650C>A, NM_004363.6:c.1650C>G, NM_004363.5:c.1650C>A, NM_004363.5:c.1650C>G, NM_004363.4:c.1650C>A, NM_004363.4:c.1650C>G, NM_004363.3:c.1650C>A, NM_004363.3:c.1650C>G, NM_004363.2:c.1650C>A, NM_004363.2:c.1650C>G, XM_017026145.3:c.1647C>A, XM_017026145.3:c.1647C>G, XM_017026145.2:c.1647C>A, XM_017026145.2:c.1647C>G, XM_017026145.1:c.1647C>A, XM_017026145.1:c.1647C>G, NM_001291484.3:c.1650C>A, NM_001291484.3:c.1650C>G, NM_001291484.2:c.1650C>A, NM_001291484.2:c.1650C>G, NM_001291484.1:c.1650C>A, NM_001291484.1:c.1650C>G, XM_017026146.3:c.1395C>A, XM_017026146.3:c.1395C>G, XM_017026146.2:c.1395C>A, XM_017026146.2:c.1395C>G, XM_017026146.1:c.1395C>A, XM_017026146.1:c.1395C>G, XM_011526322.3:c.1116C>A, XM_011526322.3:c.1116C>G, XM_011526322.2:c.1116C>A, XM_011526322.2:c.1116C>G, XM_011526322.1:c.1116C>A, XM_011526322.1:c.1116C>G, NM_001308398.2:c.1647C>A, NM_001308398.2:c.1647C>G, NM_001308398.1:c.1647C>A, NM_001308398.1:c.1647C>G

Select item 145088033216.

rs1450880332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41717729 (GRCh38)
19:42221648 (GRCh37)
Canonical SPDI:: NC_000019.10:41717728:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41717729C>T, NW_004775434.1:g.286768C>T, NC_000019.9:g.42221648C>T, NM_004363.6:c.1233C>T, NM_004363.5:c.1233C>T, NM_004363.4:c.1233C>T, NM_004363.3:c.1233C>T, NM_004363.2:c.1233C>T, XM_017026145.3:c.1230C>T, XM_017026145.2:c.1230C>T, XM_017026145.1:c.1230C>T, NM_001291484.3:c.1233C>T, NM_001291484.2:c.1233C>T, NM_001291484.1:c.1233C>T, XM_017026146.3:c.978C>T, XM_017026146.2:c.978C>T, XM_017026146.1:c.978C>T, NM_001308398.2:c.1230C>T, NM_001308398.1:c.1230C>T

Select item 144677914517.

rs1446779145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41718268 (GRCh38)
19:42222187 (GRCh37)
Canonical SPDI:: NC_000019.10:41718267:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41718268C>T, NW_004775434.1:g.287307C>T, NC_000019.9:g.42222187C>T, NM_004363.6:c.1378C>T, NM_004363.5:c.1378C>T, NM_004363.4:c.1378C>T, NM_004363.3:c.1378C>T, NM_004363.2:c.1378C>T, XM_017026145.3:c.1375C>T, XM_017026145.2:c.1375C>T, XM_017026145.1:c.1375C>T, NM_001291484.3:c.1378C>T, NM_001291484.2:c.1378C>T, NM_001291484.1:c.1378C>T, XM_017026146.3:c.1123C>T, XM_017026146.2:c.1123C>T, XM_017026146.1:c.1123C>T, XM_011526322.3:c.844C>T, XM_011526322.2:c.844C>T, XM_011526322.1:c.844C>T, NM_001308398.2:c.1375C>T, NM_001308398.1:c.1375C>T, NP_004354.3:p.Gln460Ter, XP_016881634.1:p.Gln459Ter, NP_001278413.1:p.Gln460Ter, XP_016881635.1:p.Gln375Ter, XP_011524624.1:p.Gln282Ter, NP_001295327.1:p.Gln459Ter

Select item 144552449818.

rs1445524498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41727274 (GRCh38)
19:42231194 (GRCh37)
Canonical SPDI:: NC_000019.10:41727273:C:A,NC_000019.10:41727273:C:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.41727274C>A, NC_000019.10:g.41727274C>T, NW_004775434.1:g.296313C>A, NW_004775434.1:g.296313C>T, NC_000019.9:g.42231194C>A, NC_000019.9:g.42231194C>T, NM_004363.6:c.2067C>A, NM_004363.6:c.2067C>T, NM_004363.5:c.2067C>A, NM_004363.5:c.2067C>T, NM_004363.4:c.2067C>A, NM_004363.4:c.2067C>T, NM_004363.3:c.2067C>A, NM_004363.3:c.2067C>T, NM_004363.2:c.2067C>A, NM_004363.2:c.2067C>T, XM_017026145.3:c.2064C>A, XM_017026145.3:c.2064C>T, XM_017026145.2:c.2064C>A, XM_017026145.2:c.2064C>T, XM_017026145.1:c.2064C>A, XM_017026145.1:c.2064C>T, NM_001291484.3:c.2067C>A, NM_001291484.3:c.2067C>T, NM_001291484.2:c.2067C>A, NM_001291484.2:c.2067C>T, NM_001291484.1:c.2067C>A, NM_001291484.1:c.2067C>T, XM_017026146.3:c.1812C>A, XM_017026146.3:c.1812C>T, XM_017026146.2:c.1812C>A, XM_017026146.2:c.1812C>T, XM_017026146.1:c.1812C>A, XM_017026146.1:c.1812C>T, XM_011526322.3:c.1533C>A, XM_011526322.3:c.1533C>T, XM_011526322.2:c.1533C>A, XM_011526322.2:c.1533C>T, XM_011526322.1:c.1533C>A, XM_011526322.1:c.1533C>T, NM_001308398.2:c.2064C>A, NM_001308398.2:c.2064C>T, NM_001308398.1:c.2064C>A, NM_001308398.1:c.2064C>T

Select item 144265884119.

rs1442658841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41717675 (GRCh38)
19:42221594 (GRCh37)
Canonical SPDI:: NC_000019.10:41717674:T:C
Gene:: CEACAM5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41717675T>C, NW_004775434.1:g.286714T>C, NC_000019.9:g.42221594T>C, NM_004363.6:c.1179T>C, NM_004363.5:c.1179T>C, NM_004363.4:c.1179T>C, NM_004363.3:c.1179T>C, NM_004363.2:c.1179T>C, XM_017026145.3:c.1176T>C, XM_017026145.2:c.1176T>C, XM_017026145.1:c.1176T>C, NM_001291484.3:c.1179T>C, NM_001291484.2:c.1179T>C, NM_001291484.1:c.1179T>C, XM_017026146.3:c.924T>C, XM_017026146.2:c.924T>C, XM_017026146.1:c.924T>C, NM_001308398.2:c.1176T>C, NM_001308398.1:c.1176T>C

Select item 144160792320.

rs1441607923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:41727252 (GRCh38)
19:42231172 (GRCh37)
Canonical SPDI:: NC_000019.10:41727251:G:A,NC_000019.10:41727251:G:T
Gene:: CEACAM5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41727252G>A, NC_000019.10:g.41727252G>T, NW_004775434.1:g.296291G>A, NW_004775434.1:g.296291G>T, NC_000019.9:g.42231172G>A, NC_000019.9:g.42231172G>T, NM_004363.6:c.2045G>A, NM_004363.6:c.2045G>T, NM_004363.5:c.2045G>A, NM_004363.5:c.2045G>T, NM_004363.4:c.2045G>A, NM_004363.4:c.2045G>T, NM_004363.3:c.2045G>A, NM_004363.3:c.2045G>T, NM_004363.2:c.2045G>A, NM_004363.2:c.2045G>T, XM_017026145.3:c.2042G>A, XM_017026145.3:c.2042G>T, XM_017026145.2:c.2042G>A, XM_017026145.2:c.2042G>T, XM_017026145.1:c.2042G>A, XM_017026145.1:c.2042G>T, NM_001291484.3:c.2045G>A, NM_001291484.3:c.2045G>T, NM_001291484.2:c.2045G>A, NM_001291484.2:c.2045G>T, NM_001291484.1:c.2045G>A, NM_001291484.1:c.2045G>T, XM_017026146.3:c.1790G>A, XM_017026146.3:c.1790G>T, XM_017026146.2:c.1790G>A, XM_017026146.2:c.1790G>T, XM_017026146.1:c.1790G>A, XM_017026146.1:c.1790G>T, XM_011526322.3:c.1511G>A, XM_011526322.3:c.1511G>T, XM_011526322.2:c.1511G>A, XM_011526322.2:c.1511G>T, XM_011526322.1:c.1511G>A, XM_011526322.1:c.1511G>T, NM_001308398.2:c.2042G>A, NM_001308398.2:c.2042G>T, NM_001308398.1:c.2042G>A, NM_001308398.1:c.2042G>T, NP_004354.3:p.Gly682Asp, NP_004354.3:p.Gly682Val, XP_016881634.1:p.Gly681Asp, XP_016881634.1:p.Gly681Val, NP_001278413.1:p.Gly682Asp, NP_001278413.1:p.Gly682Val, XP_016881635.1:p.Gly597Asp, XP_016881635.1:p.Gly597Val, XP_011524624.1:p.Gly504Asp, XP_011524624.1:p.Gly504Val, NP_001295327.1:p.Gly681Asp, NP_001295327.1:p.Gly681Val

<< First< Prev

Page of 30

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 596

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity