Canonical Allele Identifier: CA1087477554

Linked Data

dbSNP Id: rs1297801637
gnomAD v3: 6-31658055-C-G
gnomAD v4: 6-31658055-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658055C>G , CM000668.2:g.31658055C>G GRCh38
NC_000006.11:g.31625832C>G , CM000668.1:g.31625832C>G GRCh37
NC_000006.10:g.31733811C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.542-9C>G (APOM) MANE Select ENSP00000365081.3:n.542-9C>G
ENST00000375916.3:c.542-9C>G (APOM) ENSP00000365081.3:n.542-9C>G
ENST00000375918.6:c.*267C>G (APOM) ENSP00000365083.2:n.*267C>G
ENST00000375920.8:c.326-9C>G (APOM) ENSP00000365085.4:n.326-9C>G
NM_001256169.1:c.326-9C>G (APOM) NP_001243098.1:n.326-9C>G
NM_019101.2:c.542-9C>G (APOM) NP_061974.2:n.542-9C>G
NR_045828.1:n.577-9C>G (APOM)
XM_006715150.2:c.446-9C>G (APOM) XP_006715213.1:n.446-9C>G
XM_011514895.1:c.-14+2266G>C (BAG6) XP_011513197.1:n.-14+2266G>C
XM_006715150.3:c.446-9C>G (APOM) XP_006715213.1:n.446-9C>G
XM_017011279.2:c.-14+2266G>C (BAG6) XP_016866768.1:n.-14+2266G>C
NM_019101.3:c.542-9C>G (APOM) MANE Select NP_061974.2:n.542-9C>G
NM_001256169.2:c.326-9C>G (APOM) NP_001243098.1:n.326-9C>G
NR_045828.2:n.583-9C>G (APOM)