Canonical Allele Identifier: CA3718031

Linked Data

ClinVar Variation Id: 2337233
ClinVar RCV Id: RCV004176000
dbSNP Id: rs763927499
gnomAD v2: 6-31625422-G-A
gnomAD v3: 6-31657645-G-A
gnomAD v4: 6-31657645-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657645G>A , CM000668.2:g.31657645G>A GRCh38
NC_000006.11:g.31625422G>A , CM000668.1:g.31625422G>A GRCh37
NC_000006.10:g.31733401G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.463G>A (APOM) MANE Select ENSP00000365081.3:p.Glu155Lys
ENST00000375916.3:c.463G>A (APOM) ENSP00000365081.3:p.Glu155Lys
ENST00000375918.6:c.247G>A (APOM) ENSP00000365083.2:p.Glu83Lys
ENST00000375920.8:c.247G>A (APOM) ENSP00000365085.4:p.Glu83Lys
NM_001256169.1:c.247G>A (APOM) NP_001243098.1:p.Glu83Lys
NM_019101.2:c.463G>A (APOM) NP_061974.2:p.Glu155Lys
NR_045828.1:n.498G>A (APOM)
XM_006715150.2:c.367G>A (APOM) XP_006715213.1:p.Glu123Lys
XM_011514895.1:c.-14+2676C>T (BAG6) XP_011513197.1:n.-14+2676C>T
XM_006715150.3:c.367G>A (APOM) XP_006715213.1:p.Glu123Lys
XM_017011279.2:c.-14+2676C>T (BAG6) XP_016866768.1:n.-14+2676C>T
XM_024446545.1:c.-14+119C>T (BAG6) XP_024302313.1:n.-14+119C>T
NM_019101.3:c.463G>A (APOM) MANE Select NP_061974.2:p.Glu155Lys
NM_001256169.2:c.247G>A (APOM) NP_001243098.1:p.Glu83Lys
NR_045828.2:n.504G>A (APOM)