Canonical Allele Identifier: CA363423977

Linked Data

dbSNP Id: rs1370946821
gnomAD v2: 6-31623811-G-T
gnomAD v3: 6-31656034-G-T
gnomAD v4: 6-31656034-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31656034G>T , CM000668.2:g.31656034G>T GRCh38
NC_000006.11:g.31623811G>T , CM000668.1:g.31623811G>T GRCh37
NC_000006.10:g.31731790G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.68G>T (APOM) MANE Select ENSP00000365081.3:p.Cys23Phe
ENST00000375916.3:c.68G>T (APOM) ENSP00000365081.3:p.Cys23Phe
ENST00000375918.6:c.-102-438G>T (APOM) ENSP00000365083.2:n.-102-438G>T
ENST00000375920.8:c.-102-438G>T (APOM) ENSP00000365085.4:n.-102-438G>T
NM_001256169.1:c.-102-438G>T (APOM) NP_001243098.1:n.-102-438G>T
NM_019101.2:c.68G>T (APOM) NP_061974.2:p.Cys23Phe
NR_045828.1:n.143-438G>T (APOM)
XM_006715150.2:c.-36G>T (APOM) XP_006715213.1:n.-36G>T
XM_011514895.1:c.-13-4258C>A (BAG6) XP_011513197.1:n.-13-4258C>A
XM_006715150.3:c.-36G>T (APOM) XP_006715213.1:n.-36G>T
XM_017011279.2:c.-13-4258C>A (BAG6) XP_016866768.1:n.-13-4258C>A
XM_024446545.1:c.-14+1730C>A (BAG6) XP_024302313.1:n.-14+1730C>A
NM_019101.3:c.68G>T (APOM) MANE Select NP_061974.2:p.Cys23Phe
NM_001256169.2:c.-102-438G>T (APOM) NP_001243098.1:n.-102-438G>T
NR_045828.2:n.149-438G>T (APOM)