Canonical Allele Identifier: CA3718010

Linked Data

ClinVar Variation Id: 2514046
ClinVar RCV Id: RCV003244810
dbSNP Id: rs570765318
gnomAD v2: 6-31625234-T-A
gnomAD v3: 6-31657457-T-A
gnomAD v4: 6-31657457-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657457T>A , CM000668.2:g.31657457T>A GRCh38
NC_000006.11:g.31625234T>A , CM000668.1:g.31625234T>A GRCh37
NC_000006.10:g.31733213T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.421T>A (APOM) MANE Select ENSP00000365081.3:p.Tyr141Asn
ENST00000375916.3:c.421T>A (APOM) ENSP00000365081.3:p.Tyr141Asn
ENST00000375918.6:c.205T>A (APOM) ENSP00000365083.2:p.Tyr69Asn
ENST00000375920.8:c.205T>A (APOM) ENSP00000365085.4:p.Tyr69Asn
NM_001256169.1:c.205T>A (APOM) NP_001243098.1:p.Tyr69Asn
NM_019101.2:c.421T>A (APOM) NP_061974.2:p.Tyr141Asn
NR_045828.1:n.456T>A (APOM)
XM_006715150.2:c.325T>A (APOM) XP_006715213.1:p.Tyr109Asn
XM_011514895.1:c.-14+2864A>T (BAG6) XP_011513197.1:n.-14+2864A>T
XM_006715150.3:c.325T>A (APOM) XP_006715213.1:p.Tyr109Asn
XM_017011279.2:c.-14+2864A>T (BAG6) XP_016866768.1:n.-14+2864A>T
XM_024446545.1:c.-14+307A>T (BAG6) XP_024302313.1:n.-14+307A>T
NM_019101.3:c.421T>A (APOM) MANE Select NP_061974.2:p.Tyr141Asn
NM_001256169.2:c.205T>A (APOM) NP_001243098.1:p.Tyr69Asn
NR_045828.2:n.462T>A (APOM)