Canonical Allele Identifier: CA346014478

Gene: APOB

Linked Data

• dbSNP Id: rs1304111145
• gnomAD v2: 2-21251271-T-A
• MyVariant Identifiers: chr2:g.21251271T>A (hg19) ; chr2:g.21028399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028399T>A , CM000664.2:g.21028399T>A	GRCh38
NC_000002.11:g.21251271T>A , CM000664.1:g.21251271T>A	GRCh37
NC_000002.10:g.21104776T>A	NCBI36
NG_011793.1:g.20675A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.*1063A>T	ENSP00000501110.2:n.*1063A>T
ENST00000673882.2:c.*1063A>T	ENSP00000501253.2:n.*1063A>T
ENST00000673739.1:c.1471A>T	ENSP00000501110.1:n.1471A>T
ENST00000673882.1:c.1471A>T	ENSP00000501253.1:n.1471A>T
ENST00000233242.5:c.1757A>T MANE Select	ENSP00000233242.1:p.Asn586Ile
ENST00000399256.4:c.1757A>T	ENSP00000382200.4:p.Asn586Ile
ENST00000616098.4:c.1757A>T	ENSP00000477990.1:p.Asn586Ile
NM_000384.2:c.1757A>T	NP_000375.2:p.Asn586Ile
XM_011532809.1:c.1757A>T	XP_011531111.1:p.Asn586Ile
NM_000384.3:c.1757A>T MANE Select	NP_000375.3:p.Asn586Ile