Canonical Allele Identifier: CA3718039

Linked Data

dbSNP Id: rs754572114
gnomAD v2: 6-31625459-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657682G>T , CM000668.2:g.31657682G>T GRCh38
NC_000006.11:g.31625459G>T , CM000668.1:g.31625459G>T GRCh37
NC_000006.10:g.31733438G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.500G>T (APOM) MANE Select ENSP00000365081.3:p.Cys167Phe
ENST00000375916.3:c.500G>T (APOM) ENSP00000365081.3:p.Cys167Phe
ENST00000375918.6:c.284G>T (APOM) ENSP00000365083.2:p.Cys95Phe
ENST00000375920.8:c.284G>T (APOM) ENSP00000365085.4:p.Cys95Phe
NM_001256169.1:c.284G>T (APOM) NP_001243098.1:p.Cys95Phe
NM_019101.2:c.500G>T (APOM) NP_061974.2:p.Cys167Phe
NR_045828.1:n.535G>T (APOM)
XM_006715150.2:c.404G>T (APOM) XP_006715213.1:p.Cys135Phe
XM_011514895.1:c.-14+2639C>A (BAG6) XP_011513197.1:n.-14+2639C>A
XM_006715150.3:c.404G>T (APOM) XP_006715213.1:p.Cys135Phe
XM_017011279.2:c.-14+2639C>A (BAG6) XP_016866768.1:n.-14+2639C>A
XM_024446545.1:c.-14+82C>A (BAG6) XP_024302313.1:n.-14+82C>A
NM_019101.3:c.500G>T (APOM) MANE Select NP_061974.2:p.Cys167Phe
NM_001256169.2:c.284G>T (APOM) NP_001243098.1:p.Cys95Phe
NR_045828.2:n.541G>T (APOM)