Canonical Allele Identifier: CA363430342

Linked Data

dbSNP Id: rs1232206356
gnomAD v2: 6-31625432-T-C
gnomAD v4: 6-31657655-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657655T>C , CM000668.2:g.31657655T>C GRCh38
NC_000006.11:g.31625432T>C , CM000668.1:g.31625432T>C GRCh37
NC_000006.10:g.31733411T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.473T>C (APOM) MANE Select ENSP00000365081.3:p.Val158Ala
ENST00000375916.3:c.473T>C (APOM) ENSP00000365081.3:p.Val158Ala
ENST00000375918.6:c.257T>C (APOM) ENSP00000365083.2:p.Val86Ala
ENST00000375920.8:c.257T>C (APOM) ENSP00000365085.4:p.Val86Ala
NM_001256169.1:c.257T>C (APOM) NP_001243098.1:p.Val86Ala
NM_019101.2:c.473T>C (APOM) NP_061974.2:p.Val158Ala
NR_045828.1:n.508T>C (APOM)
XM_006715150.2:c.377T>C (APOM) XP_006715213.1:p.Val126Ala
XM_011514895.1:c.-14+2666A>G (BAG6) XP_011513197.1:n.-14+2666A>G
XM_006715150.3:c.377T>C (APOM) XP_006715213.1:p.Val126Ala
XM_017011279.2:c.-14+2666A>G (BAG6) XP_016866768.1:n.-14+2666A>G
XM_024446545.1:c.-14+109A>G (BAG6) XP_024302313.1:n.-14+109A>G
NM_019101.3:c.473T>C (APOM) MANE Select NP_061974.2:p.Val158Ala
NM_001256169.2:c.257T>C (APOM) NP_001243098.1:p.Val86Ala
NR_045828.2:n.514T>C (APOM)