SNP Links for Protein (Select 57242766) - SNP

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Links from Protein

Items: 1 to 20 of 301

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Select item 14876168531.

rs1487616853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660414 (GRCh38)
7:106300860 (GRCh37)
Canonical SPDI:: NC_000007.14:106660413:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.106660414G>A, NC_000007.13:g.106300860G>A, NG_051955.1:g.5775C>T, NM_175884.6:c.483C>T, NM_175884.5:c.483C>T, NM_175884.4:c.483C>T

Select item 14849383082.

rs1484938308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106660548 (GRCh38)
7:106300994 (GRCh37)
Canonical SPDI:: NC_000007.14:106660547:C:T
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.106660548C>T, NC_000007.13:g.106300994C>T, NG_051955.1:g.5641G>A, NM_175884.6:c.349G>A, NM_175884.5:c.349G>A, NM_175884.4:c.349G>A, NP_787080.2:p.Ala117Thr

Select item 14834986643.

rs1483498664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:106660847 (GRCh38)
7:106301293 (GRCh37)
Canonical SPDI:: NC_000007.14:106660846:G:T
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.106660847G>T, NC_000007.13:g.106301293G>T, NG_051955.1:g.5342C>A, NM_175884.6:c.50C>A, NM_175884.5:c.50C>A, NM_175884.4:c.50C>A, NP_787080.2:p.Ala17Asp

Select item 14831349394.

rs1483134939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:106660520 (GRCh38)
7:106300966 (GRCh37)
Canonical SPDI:: NC_000007.14:106660519:G:T
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106660520G>T, NC_000007.13:g.106300966G>T, NG_051955.1:g.5669C>A, NM_175884.6:c.377C>A, NM_175884.5:c.377C>A, NM_175884.4:c.377C>A, NP_787080.2:p.Pro126Gln

Select item 14817669915.

rs1481766991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106660768 (GRCh38)
7:106301214 (GRCh37)
Canonical SPDI:: NC_000007.14:106660767:C:T
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.106660768C>T, NC_000007.13:g.106301214C>T, NG_051955.1:g.5421G>A, NM_175884.6:c.129G>A, NM_175884.5:c.129G>A, NM_175884.4:c.129G>A

Select item 14745235036.

rs1474523503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:106660413 (GRCh38)
7:106300859 (GRCh37)
Canonical SPDI:: NC_000007.14:106660412:G:A,NC_000007.14:106660412:G:C
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00463/1 (Vietnamese)
HGVS:: NC_000007.14:g.106660413G>A, NC_000007.14:g.106660413G>C, NC_000007.13:g.106300859G>A, NC_000007.13:g.106300859G>C, NG_051955.1:g.5776C>T, NG_051955.1:g.5776C>G, NM_175884.6:c.484C>T, NM_175884.6:c.484C>G, NM_175884.5:c.484C>T, NM_175884.5:c.484C>G, NM_175884.4:c.484C>T, NM_175884.4:c.484C>G, NP_787080.2:p.Pro162Ser, NP_787080.2:p.Pro162Ala

Select item 14670538147.

rs1467053814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:106660820 (GRCh38)
7:106301266 (GRCh37)
Canonical SPDI:: NC_000007.14:106660819:C:G,NC_000007.14:106660819:C:T
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106660820C>G, NC_000007.14:g.106660820C>T, NC_000007.13:g.106301266C>G, NC_000007.13:g.106301266C>T, NG_051955.1:g.5369G>C, NG_051955.1:g.5369G>A, NM_175884.6:c.77G>C, NM_175884.6:c.77G>A, NM_175884.5:c.77G>C, NM_175884.5:c.77G>A, NM_175884.4:c.77G>C, NM_175884.4:c.77G>A, NP_787080.2:p.Arg26Thr, NP_787080.2:p.Arg26Lys

Select item 14653844948.

rs1465384494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660564 (GRCh38)
7:106301010 (GRCh37)
Canonical SPDI:: NC_000007.14:106660563:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106660564G>A, NC_000007.13:g.106301010G>A, NG_051955.1:g.5625C>T, NM_175884.6:c.333C>T, NM_175884.5:c.333C>T, NM_175884.4:c.333C>T

Select item 14600015209.

rs1460001520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660831 (GRCh38)
7:106301277 (GRCh37)
Canonical SPDI:: NC_000007.14:106660830:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.106660831G>A, NC_000007.13:g.106301277G>A, NG_051955.1:g.5358C>T, NM_175884.6:c.66C>T, NM_175884.5:c.66C>T, NM_175884.4:c.66C>T

Select item 145870057110.

rs1458700571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGTGGCCGGGGCGACCGGGCG [Show Flanks]
Chromosome:: 7:106660833 (GRCh38)
7:106301280 (GRCh37)
Canonical SPDI:: NC_000007.14:106660833:CCGGGCGGCCGTGGCCGGGGCGACCGGGCG:CCGGGCGGCCGTGGCCGGGGCGACCGGGCGGCCGTGGCCGGGGCGACCGGGCG
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCGGGCGGCCGTGGCCGGGGCGACCGGGCGGCCGTGGCCGGGGCGACCGGGCG=0./0 (ALFA)
CCGGGCGGCCGTGGCCGGGGCGA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.106660841_106660863dup, NC_000007.13:g.106301287_106301309dup, NG_051955.1:g.5333_5355dup, NM_175884.6:c.41_63dup, NM_175884.5:c.41_63dup, NM_175884.4:c.41_63dup, NP_787080.2:p.Gly22fs

Select item 145819111811.

rs1458191118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:106660713 (GRCh38)
7:106301159 (GRCh37)
Canonical SPDI:: NC_000007.14:106660712:G:A,NC_000007.14:106660712:G:T
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.106660713G>A, NC_000007.14:g.106660713G>T, NC_000007.13:g.106301159G>A, NC_000007.13:g.106301159G>T, NG_051955.1:g.5476C>T, NG_051955.1:g.5476C>A, NM_175884.6:c.184C>T, NM_175884.6:c.184C>A, NM_175884.5:c.184C>T, NM_175884.5:c.184C>A, NM_175884.4:c.184C>T, NM_175884.4:c.184C>A, NP_787080.2:p.Leu62Phe, NP_787080.2:p.Leu62Ile

Select item 145651220512.

rs1456512205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:106660840 (GRCh38)
7:106301286 (GRCh37)
Canonical SPDI:: NC_000007.14:106660839:G:A,NC_000007.14:106660839:G:T
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.106660840G>A, NC_000007.14:g.106660840G>T, NC_000007.13:g.106301286G>A, NC_000007.13:g.106301286G>T, NG_051955.1:g.5349C>T, NG_051955.1:g.5349C>A, NM_175884.6:c.57C>T, NM_175884.6:c.57C>A, NM_175884.5:c.57C>T, NM_175884.5:c.57C>A, NM_175884.4:c.57C>T, NM_175884.4:c.57C>A

Select item 145491750613.

rs1454917506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:106660441 (GRCh38)
7:106300887 (GRCh37)
Canonical SPDI:: NC_000007.14:106660440:T:A,NC_000007.14:106660440:T:G
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.00028/8 (TOMMO)
HGVS:: NC_000007.14:g.106660441T>A, NC_000007.14:g.106660441T>G, NC_000007.13:g.106300887T>A, NC_000007.13:g.106300887T>G, NG_051955.1:g.5748A>T, NG_051955.1:g.5748A>C, NM_175884.6:c.456A>T, NM_175884.6:c.456A>C, NM_175884.5:c.456A>T, NM_175884.5:c.456A>C, NM_175884.4:c.456A>T, NM_175884.4:c.456A>C

Select item 145233900114.

rs1452339001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:106660629 (GRCh38)
7:106301075 (GRCh37)
Canonical SPDI:: NC_000007.14:106660628:G:T
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.106660629G>T, NC_000007.13:g.106301075G>T, NG_051955.1:g.5560C>A, NM_175884.6:c.268C>A, NM_175884.5:c.268C>A, NM_175884.4:c.268C>A, NP_787080.2:p.Pro90Thr

Select item 144429351015.

rs1444293510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:106660599 (GRCh38)
7:106301045 (GRCh37)
Canonical SPDI:: NC_000007.14:106660598:C:A
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.106660599C>A, NC_000007.13:g.106301045C>A, NG_051955.1:g.5590G>T, NM_175884.6:c.298G>T, NM_175884.5:c.298G>T, NM_175884.4:c.298G>T, NP_787080.2:p.Gly100Cys

Select item 144311161316.

rs1443111613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:106660524 (GRCh38)
7:106300970 (GRCh37)
Canonical SPDI:: NC_000007.14:106660523:C:G
Gene:: CCDC71L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.106660524C>G, NC_000007.13:g.106300970C>G, NG_051955.1:g.5665G>C, NM_175884.6:c.373G>C, NM_175884.5:c.373G>C, NM_175884.4:c.373G>C, NP_787080.2:p.Val125Leu

Select item 144158349117.

rs1441583491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660633 (GRCh38)
7:106301079 (GRCh37)
Canonical SPDI:: NC_000007.14:106660632:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.106660633G>A, NC_000007.13:g.106301079G>A, NG_051955.1:g.5556C>T, NM_175884.6:c.264C>T, NM_175884.5:c.264C>T, NM_175884.4:c.264C>T

Select item 143729643618.

rs1437296436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660758 (GRCh38)
7:106301204 (GRCh37)
Canonical SPDI:: NC_000007.14:106660757:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.106660758G>A, NC_000007.13:g.106301204G>A, NG_051955.1:g.5431C>T, NM_175884.6:c.139C>T, NM_175884.5:c.139C>T, NM_175884.4:c.139C>T

Select item 143362151719.

rs1433621517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106660865 (GRCh38)
7:106301311 (GRCh37)
Canonical SPDI:: NC_000007.14:106660864:C:T
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.106660865C>T, NC_000007.13:g.106301311C>T, NG_051955.1:g.5324G>A, NM_175884.6:c.32G>A, NM_175884.5:c.32G>A, NM_175884.4:c.32G>A, NP_787080.2:p.Arg11Gln

Select item 143095488020.

rs1430954880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106660617 (GRCh38)
7:106301063 (GRCh37)
Canonical SPDI:: NC_000007.14:106660616:G:A
Gene:: CCDC71L (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000007.14:g.106660617G>A, NC_000007.13:g.106301063G>A, NG_051955.1:g.5572C>T, NM_175884.6:c.280C>T, NM_175884.5:c.280C>T, NM_175884.4:c.280C>T, NP_787080.2:p.Arg94Cys