Canonical Allele Identifier: CA3718011

Linked Data

dbSNP Id: rs753977558
gnomAD v2: 6-31625240-C-T
gnomAD v4: 6-31657463-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657463C>T , CM000668.2:g.31657463C>T GRCh38
NC_000006.11:g.31625240C>T , CM000668.1:g.31625240C>T GRCh37
NC_000006.10:g.31733219C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.427C>T (APOM) MANE Select ENSP00000365081.3:p.Arg143Cys
ENST00000375916.3:c.427C>T (APOM) ENSP00000365081.3:p.Arg143Cys
ENST00000375918.6:c.211C>T (APOM) ENSP00000365083.2:p.Arg71Cys
ENST00000375920.8:c.211C>T (APOM) ENSP00000365085.4:p.Arg71Cys
NM_001256169.1:c.211C>T (APOM) NP_001243098.1:p.Arg71Cys
NM_019101.2:c.427C>T (APOM) NP_061974.2:p.Arg143Cys
NR_045828.1:n.462C>T (APOM)
XM_006715150.2:c.331C>T (APOM) XP_006715213.1:p.Arg111Cys
XM_011514895.1:c.-14+2858G>A (BAG6) XP_011513197.1:n.-14+2858G>A
XM_006715150.3:c.331C>T (APOM) XP_006715213.1:p.Arg111Cys
XM_017011279.2:c.-14+2858G>A (BAG6) XP_016866768.1:n.-14+2858G>A
XM_024446545.1:c.-14+301G>A (BAG6) XP_024302313.1:n.-14+301G>A
NM_019101.3:c.427C>T (APOM) MANE Select NP_061974.2:p.Arg143Cys
NM_001256169.2:c.211C>T (APOM) NP_001243098.1:p.Arg71Cys
NR_045828.2:n.468C>T (APOM)