Canonical Allele Identifier: CA363427427

Linked Data

dbSNP Id: rs1412007225
gnomAD v3: 6-31657382-C-T
gnomAD v4: 6-31657382-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657382C>T , CM000668.2:g.31657382C>T GRCh38
NC_000006.11:g.31625159C>T , CM000668.1:g.31625159C>T GRCh37
NC_000006.10:g.31733138C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.346C>T (APOM) MANE Select ENSP00000365081.3:p.Arg116Cys
ENST00000375916.3:c.346C>T (APOM) ENSP00000365081.3:p.Arg116Cys
ENST00000375918.6:c.130C>T (APOM) ENSP00000365083.2:p.Arg44Cys
ENST00000375920.8:c.130C>T (APOM) ENSP00000365085.4:p.Arg44Cys
NM_001256169.1:c.130C>T (APOM) NP_001243098.1:p.Arg44Cys
NM_019101.2:c.346C>T (APOM) NP_061974.2:p.Arg116Cys
NR_045828.1:n.381C>T (APOM)
XM_006715150.2:c.250C>T (APOM) XP_006715213.1:p.Arg84Cys
XM_011514895.1:c.-14+2939G>A (BAG6) XP_011513197.1:n.-14+2939G>A
XM_006715150.3:c.250C>T (APOM) XP_006715213.1:p.Arg84Cys
XM_017011279.2:c.-14+2939G>A (BAG6) XP_016866768.1:n.-14+2939G>A
XM_024446545.1:c.-14+382G>A (BAG6) XP_024302313.1:n.-14+382G>A
NM_019101.3:c.346C>T (APOM) MANE Select NP_061974.2:p.Arg116Cys
NM_001256169.2:c.130C>T (APOM) NP_001243098.1:p.Arg44Cys
NR_045828.2:n.387C>T (APOM)