Canonical Allele Identifier: CA566690937

Linked Data

dbSNP Id: rs1485019559
gnomAD v2: 6-31625345-G-A
gnomAD v3: 6-31657568-G-A
gnomAD v4: 6-31657568-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657568G>A , CM000668.2:g.31657568G>A GRCh38
NC_000006.11:g.31625345G>A , CM000668.1:g.31625345G>A GRCh37
NC_000006.10:g.31733324G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.443-57G>A (APOM) MANE Select ENSP00000365081.3:n.443-57G>A
ENST00000375916.3:c.443-57G>A (APOM) ENSP00000365081.3:n.443-57G>A
ENST00000375918.6:c.227-57G>A (APOM) ENSP00000365083.2:n.227-57G>A
ENST00000375920.8:c.227-57G>A (APOM) ENSP00000365085.4:n.227-57G>A
NM_001256169.1:c.227-57G>A (APOM) NP_001243098.1:n.227-57G>A
NM_019101.2:c.443-57G>A (APOM) NP_061974.2:n.443-57G>A
NR_045828.1:n.478-57G>A (APOM)
XM_006715150.2:c.347-57G>A (APOM) XP_006715213.1:n.347-57G>A
XM_011514895.1:c.-14+2753C>T (BAG6) XP_011513197.1:n.-14+2753C>T
XM_006715150.3:c.347-57G>A (APOM) XP_006715213.1:n.347-57G>A
XM_017011279.2:c.-14+2753C>T (BAG6) XP_016866768.1:n.-14+2753C>T
XM_024446545.1:c.-14+196C>T (BAG6) XP_024302313.1:n.-14+196C>T
NM_019101.3:c.443-57G>A (APOM) MANE Select NP_061974.2:n.443-57G>A
NM_001256169.2:c.227-57G>A (APOM) NP_001243098.1:n.227-57G>A
NR_045828.2:n.484-57G>A (APOM)