Canonical Allele Identifier: CA136880247

Linked Data

ClinVar Variation Id: 2407504
ClinVar RCV Id: RCV002774232
dbSNP Id: rs748212498
gnomAD v4: 6-31656036-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31656036C>A , CM000668.2:g.31656036C>A GRCh38
NC_000006.11:g.31623813C>A , CM000668.1:g.31623813C>A GRCh37
NC_000006.10:g.31731792C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.70C>A (APOM) MANE Select ENSP00000365081.3:p.Pro24Thr
ENST00000375916.3:c.70C>A (APOM) ENSP00000365081.3:p.Pro24Thr
ENST00000375918.6:c.-102-436C>A (APOM) ENSP00000365083.2:n.-102-436C>A
ENST00000375920.8:c.-102-436C>A (APOM) ENSP00000365085.4:n.-102-436C>A
NM_001256169.1:c.-102-436C>A (APOM) NP_001243098.1:n.-102-436C>A
NM_019101.2:c.70C>A (APOM) NP_061974.2:p.Pro24Thr
NR_045828.1:n.143-436C>A (APOM)
XM_006715150.2:c.-34C>A (APOM) XP_006715213.1:n.-34C>A
XM_011514895.1:c.-13-4260G>T (BAG6) XP_011513197.1:n.-13-4260G>T
XM_006715150.3:c.-34C>A (APOM) XP_006715213.1:n.-34C>A
XM_017011279.2:c.-13-4260G>T (BAG6) XP_016866768.1:n.-13-4260G>T
XM_024446545.1:c.-14+1728G>T (BAG6) XP_024302313.1:n.-14+1728G>T
NM_019101.3:c.70C>A (APOM) MANE Select NP_061974.2:p.Pro24Thr
NM_001256169.2:c.-102-436C>A (APOM) NP_001243098.1:n.-102-436C>A
NR_045828.2:n.149-436C>A (APOM)