Canonical Allele Identifier: CA3717911

Linked Data

dbSNP Id: rs749631812
gnomAD v2: 6-31623792-C-G
gnomAD v3: 6-31656015-C-G
gnomAD v4: 6-31656015-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31656015C>G , CM000668.2:g.31656015C>G GRCh38
NC_000006.11:g.31623792C>G , CM000668.1:g.31623792C>G GRCh37
NC_000006.10:g.31731771C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.49C>G (APOM) MANE Select ENSP00000365081.3:p.Leu17Val
ENST00000375916.3:c.49C>G (APOM) ENSP00000365081.3:p.Leu17Val
ENST00000375918.6:c.-102-457C>G (APOM) ENSP00000365083.2:n.-102-457C>G
ENST00000375920.8:c.-102-457C>G (APOM) ENSP00000365085.4:n.-102-457C>G
NM_001256169.1:c.-102-457C>G (APOM) NP_001243098.1:n.-102-457C>G
NM_019101.2:c.49C>G (APOM) NP_061974.2:p.Leu17Val
NR_045828.1:n.143-457C>G (APOM)
XM_006715150.2:c.-55C>G (APOM) XP_006715213.1:n.-55C>G
XM_011514895.1:c.-13-4239G>C (BAG6) XP_011513197.1:n.-13-4239G>C
XM_006715150.3:c.-55C>G (APOM) XP_006715213.1:n.-55C>G
XM_017011279.2:c.-13-4239G>C (BAG6) XP_016866768.1:n.-13-4239G>C
XM_024446545.1:c.-14+1749G>C (BAG6) XP_024302313.1:n.-14+1749G>C
NM_019101.3:c.49C>G (APOM) MANE Select NP_061974.2:p.Leu17Val
NM_001256169.2:c.-102-457C>G (APOM) NP_001243098.1:n.-102-457C>G
NR_045828.2:n.149-457C>G (APOM)