Canonical Allele Identifier: CA053161

Gene: APOB

Linked Data

• ClinVar Variation Id: 627679
• ClinVar RCV Id: RCV002386333 ; RCV002533985
• dbSNP Id: rs763773989
• ExAC: 2:21224744 G / A
• gnomAD v2: 2-21224744-G-A
• gnomAD v3: 2-21001872-G-A
• gnomAD v4: 2-21001872-G-A
• COSMIC: COSM5396095
• MyVariant Identifiers: chr2:g.21224744G>A (hg19) ; chr2:g.21001872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001872G>A , CM000664.2:g.21001872G>A	GRCh38
NC_000002.11:g.21224744G>A , CM000664.1:g.21224744G>A	GRCh37
NC_000002.10:g.21078249G>A	NCBI36
NG_011793.1:g.47202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13550C>T MANE Select	ENSP00000233242.1:p.Ser4517Phe
ENST00000616098.4:c.13548C>T	ENSP00000477990.1:n.13548C>T
NM_000384.2:c.13550C>T	NP_000375.2:p.Ser4517Phe
XM_011532809.1:c.5870-2599C>T	XP_011531111.1:n.5870-2599C>T
NM_000384.3:c.13550C>T MANE Select	NP_000375.3:p.Ser4517Phe