SNP Links for Protein (Select 7108336) - SNP

Links from Protein

Items: 1 to 20 of 456

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Select item 14887910001.

rs1488791000 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 15:34063190 (GRCh38)
15:34355391 (GRCh37)
Canonical SPDI:: NC_000015.10:34063187:CTCCT:CT
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34063190_34063192del, NC_000015.9:g.34355391_34355393del, NM_012125.4:c.473_475del, NM_012125.3:c.473_475del, NM_001320917.2:c.473_475del, NM_001320917.1:c.473_475del, NP_036257.1:p.Ser158del, NP_001307846.1:p.Ser158del

Select item 14822071322.

rs1482207132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:34063155 (GRCh38)
15:34355356 (GRCh37)
Canonical SPDI:: NC_000015.10:34063154:G:C,NC_000015.10:34063154:G:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34063155G>C, NC_000015.10:g.34063155G>T, NC_000015.9:g.34355356G>C, NC_000015.9:g.34355356G>T, NM_012125.4:c.438G>C, NM_012125.4:c.438G>T, NM_012125.3:c.438G>C, NM_012125.3:c.438G>T, NM_001320917.2:c.438G>C, NM_001320917.2:c.438G>T, NM_001320917.1:c.438G>C, NM_001320917.1:c.438G>T, NP_036257.1:p.Arg146Ser, NP_036257.1:p.Arg146Ser, NP_001307846.1:p.Arg146Ser, NP_001307846.1:p.Arg146Ser

Select item 14820927863.

rs1482092786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34063384 (GRCh38)
15:34355585 (GRCh37)
Canonical SPDI:: NC_000015.10:34063383:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34063384C>T, NC_000015.9:g.34355585C>T, NM_012125.4:c.667C>T, NM_012125.3:c.667C>T, NM_001320917.2:c.667C>T, NM_001320917.1:c.667C>T, NP_036257.1:p.Arg223Ter, NP_001307846.1:p.Arg223Ter

Select item 14806641204.

rs1480664120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34062759 (GRCh38)
15:34354960 (GRCh37)
Canonical SPDI:: NC_000015.10:34062758:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34062759C>T, NC_000015.9:g.34354960C>T, NM_012125.4:c.42C>T, NM_012125.3:c.42C>T, NM_001320917.2:c.42C>T, NM_001320917.1:c.42C>T

Select item 14796062405.

rs1479606240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34063901 (GRCh38)
15:34356102 (GRCh37)
Canonical SPDI:: NC_000015.10:34063900:A:G
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34063901A>G, NC_000015.9:g.34356102A>G, NM_012125.4:c.1184A>G, NM_012125.3:c.1184A>G, NM_001320917.2:c.1184A>G, NM_001320917.1:c.1184A>G, NP_036257.1:p.Asn395Ser, NP_001307846.1:p.Asn395Ser

Select item 14759416476.

rs1475941647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:34063484 (GRCh38)
15:34355685 (GRCh37)
Canonical SPDI:: NC_000015.10:34063483:G:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.34063484G>T, NC_000015.9:g.34355685G>T, NM_012125.4:c.767G>T, NM_012125.3:c.767G>T, NM_001320917.2:c.767G>T, NM_001320917.1:c.767G>T, NP_036257.1:p.Cys256Phe, NP_001307846.1:p.Cys256Phe

Select item 14750088547.

rs1475008854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34063001 (GRCh38)
15:34355202 (GRCh37)
Canonical SPDI:: NC_000015.10:34063000:G:A
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34063001G>A, NC_000015.9:g.34355202G>A, NM_012125.4:c.284G>A, NM_012125.3:c.284G>A, NM_001320917.2:c.284G>A, NM_001320917.1:c.284G>A, NP_036257.1:p.Arg95His, NP_001307846.1:p.Arg95His

Select item 14748799818.

rs1474879981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:34064100 (GRCh38)
15:34356301 (GRCh37)
Canonical SPDI:: NC_000015.10:34064099:G:A,NC_000015.10:34064099:G:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34064100G>A, NC_000015.10:g.34064100G>T, NC_000015.9:g.34356301G>A, NC_000015.9:g.34356301G>T, NM_012125.4:c.1383G>A, NM_012125.4:c.1383G>T, NM_012125.3:c.1383G>A, NM_012125.3:c.1383G>T, NM_001320917.2:c.1383G>A, NM_001320917.2:c.1383G>T, NM_001320917.1:c.1383G>A, NM_001320917.1:c.1383G>T, NP_036257.1:p.Met461Ile, NP_036257.1:p.Met461Ile, NP_001307846.1:p.Met461Ile, NP_001307846.1:p.Met461Ile

Select item 14736558179.

rs1473655817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34063166 (GRCh38)
15:34355367 (GRCh37)
Canonical SPDI:: NC_000015.10:34063165:T:C
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34063166T>C, NC_000015.9:g.34355367T>C, NM_012125.4:c.449T>C, NM_012125.3:c.449T>C, NM_001320917.2:c.449T>C, NM_001320917.1:c.449T>C, NP_036257.1:p.Met150Thr, NP_001307846.1:p.Met150Thr

Select item 147023197010.

rs1470231970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:34062846 (GRCh38)
15:34355047 (GRCh37)
Canonical SPDI:: NC_000015.10:34062845:C:A,NC_000015.10:34062845:C:G
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,genic_upstream_transcript_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)
A=0.000012/3 (GnomAD_exomes)
G=0.00006/1 (TOMMO)
HGVS:: NC_000015.10:g.34062846C>A, NC_000015.10:g.34062846C>G, NC_000015.9:g.34355047C>A, NC_000015.9:g.34355047C>G, NM_012125.4:c.129C>A, NM_012125.4:c.129C>G, NM_012125.3:c.129C>A, NM_012125.3:c.129C>G, NM_001320917.2:c.129C>A, NM_001320917.2:c.129C>G, NM_001320917.1:c.129C>A, NM_001320917.1:c.129C>G, NP_036257.1:p.Ile43Met, NP_001307846.1:p.Ile43Met

Select item 147019011311.

rs1470190113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34063896 (GRCh38)
15:34356097 (GRCh37)
Canonical SPDI:: NC_000015.10:34063895:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.34063896C>T, NC_000015.9:g.34356097C>T, NM_012125.4:c.1179C>T, NM_012125.3:c.1179C>T, NM_001320917.2:c.1179C>T, NM_001320917.1:c.1179C>T

Select item 147007699612.

rs1470076996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34063496 (GRCh38)
15:34355697 (GRCh37)
Canonical SPDI:: NC_000015.10:34063495:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.34063496C>T, NC_000015.9:g.34355697C>T, NM_012125.4:c.779C>T, NM_012125.3:c.779C>T, NM_001320917.2:c.779C>T, NM_001320917.1:c.779C>T, NP_036257.1:p.Thr260Ile, NP_001307846.1:p.Thr260Ile

Select item 146879906413.

rs1468799064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:34064091 (GRCh38)
15:34356292 (GRCh37)
Canonical SPDI:: NC_000015.10:34064090:T:G
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34064091T>G, NC_000015.9:g.34356292T>G, NM_012125.4:c.1374T>G, NM_012125.3:c.1374T>G, NM_001320917.2:c.1374T>G, NM_001320917.1:c.1374T>G, NP_036257.1:p.Tyr458Ter, NP_001307846.1:p.Tyr458Ter

Select item 146668577714.

rs1466685777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34063467 (GRCh38)
15:34355668 (GRCh37)
Canonical SPDI:: NC_000015.10:34063466:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_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_000015.10:g.34063467C>T, NC_000015.9:g.34355668C>T, NM_012125.4:c.750C>T, NM_012125.3:c.750C>T, NM_001320917.2:c.750C>T, NM_001320917.1:c.750C>T

Select item 146554440815.

rs1465544408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:34063924 (GRCh38)
15:34356125 (GRCh37)
Canonical SPDI:: NC_000015.10:34063923:A:G,NC_000015.10:34063923:A:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34063924A>G, NC_000015.10:g.34063924A>T, NC_000015.9:g.34356125A>G, NC_000015.9:g.34356125A>T, NM_012125.4:c.1207A>G, NM_012125.4:c.1207A>T, NM_012125.3:c.1207A>G, NM_012125.3:c.1207A>T, NM_001320917.2:c.1207A>G, NM_001320917.2:c.1207A>T, NM_001320917.1:c.1207A>G, NM_001320917.1:c.1207A>T, NP_036257.1:p.Met403Val, NP_036257.1:p.Met403Leu, NP_001307846.1:p.Met403Val, NP_001307846.1:p.Met403Leu

Select item 146246087816.

rs1462460878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:34063335 (GRCh38)
15:34355536 (GRCh37)
Canonical SPDI:: NC_000015.10:34063334:T:G
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34063335T>G, NC_000015.9:g.34355536T>G, NM_012125.4:c.618T>G, NM_012125.3:c.618T>G, NM_001320917.2:c.618T>G, NM_001320917.1:c.618T>G

Select item 146240593017.

rs1462405930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:34063393 (GRCh38)
15:34355594 (GRCh37)
Canonical SPDI:: NC_000015.10:34063392:G:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34063393G>T, NC_000015.9:g.34355594G>T, NM_012125.4:c.676G>T, NM_012125.3:c.676G>T, NM_001320917.2:c.676G>T, NM_001320917.1:c.676G>T, NP_036257.1:p.Asp226Tyr, NP_001307846.1:p.Asp226Tyr

Select item 145924000818.

rs1459240008 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:34063756 (GRCh38)
15:34355957 (GRCh37)
Canonical SPDI:: NC_000015.10:34063755:G:
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34063756del, NC_000015.9:g.34355957del, NM_012125.4:c.1039del, NM_012125.3:c.1039del, NM_001320917.2:c.1039del, NM_001320917.1:c.1039del, NP_036257.1:p.Phe346_Val347insTer, NP_001307846.1:p.Phe346_Val347insTer

Select item 145626413219.

rs1456264132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:34063635 (GRCh38)
15:34355836 (GRCh37)
Canonical SPDI:: NC_000015.10:34063634:C:A,NC_000015.10:34063634:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.001092/2 (Korea1K)
HGVS:: NC_000015.10:g.34063635C>A, NC_000015.10:g.34063635C>T, NC_000015.9:g.34355836C>A, NC_000015.9:g.34355836C>T, NM_012125.4:c.918C>A, NM_012125.4:c.918C>T, NM_012125.3:c.918C>A, NM_012125.3:c.918C>T, NM_001320917.2:c.918C>A, NM_001320917.2:c.918C>T, NM_001320917.1:c.918C>A, NM_001320917.1:c.918C>T, NP_036257.1:p.Tyr306Ter, NP_001307846.1:p.Tyr306Ter

Select item 145303378820.

rs1453033788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34063548 (GRCh38)
15:34355749 (GRCh37)
Canonical SPDI:: NC_000015.10:34063547:C:T
Gene:: CHRM5 (Varview), AVEN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000015.10:g.34063548C>T, NC_000015.9:g.34355749C>T, NM_012125.4:c.831C>T, NM_012125.3:c.831C>T, NM_001320917.2:c.831C>T, NM_001320917.1:c.831C>T

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