Canonical Allele Identifier: CA057625

Gene: APOB

Linked Data

• ClinVar Variation Id: 431493
• ClinVar RCV Id: RCV000497133 ; RCV001138061 ; RCV001283876 ; RCV001142808 ; RCV001837931 ; RCV002438205
• dbSNP Id: rs139434026
• ExAC: 2:21242626 C / T
• gnomAD v2: 2-21242626-C-T
• gnomAD v3: 2-21019754-C-T
• gnomAD v4: 2-21019754-C-T
• MyVariant Identifiers: chr2:g.21242626C>T (hg19) ; chr2:g.21019754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21019754C>T , CM000664.2:g.21019754C>T	GRCh38
NC_000002.11:g.21242626C>T , CM000664.1:g.21242626C>T	GRCh37
NC_000002.10:g.21096131C>T	NCBI36
NG_011793.1:g.29320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2274G>A	ENSP00000501110.2:n.*2274G>A
ENST00000673882.2:c.*2274G>A	ENSP00000501253.2:n.*2274G>A
ENST00000673739.1:c.2682G>A	ENSP00000501110.1:n.2682G>A
ENST00000673882.1:c.2682G>A	ENSP00000501253.1:n.2682G>A
ENST00000233242.5:c.2968G>A MANE Select	ENSP00000233242.1:p.Ala990Thr
ENST00000616098.4:c.2968G>A	ENSP00000477990.1:p.Ala990Thr
NM_000384.2:c.2968G>A	NP_000375.2:p.Ala990Thr
XM_011532809.1:c.2968G>A	XP_011531111.1:p.Ala990Thr
NM_000384.3:c.2968G>A MANE Select	NP_000375.3:p.Ala990Thr