Canonical Allele Identifier: CA346009110

Gene: APOB

Linked Data

• gnomAD v4: 2-21015453-G-C
• MyVariant Identifiers: chr2:g.21238325G>C (hg19) ; chr2:g.21015453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015453G>C , CM000664.2:g.21015453G>C	GRCh38
NC_000002.11:g.21238325G>C , CM000664.1:g.21238325G>C	GRCh37
NC_000002.10:g.21091830G>C	NCBI36
NG_011793.1:g.33621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2731C>G	ENSP00000501110.2:n.*2731C>G
ENST00000673882.2:c.*2520C>G	ENSP00000501253.2:n.*2520C>G
ENST00000673739.1:c.3139C>G	ENSP00000501110.1:n.3139C>G
ENST00000673882.1:c.2928C>G	ENSP00000501253.1:n.2928C>G
ENST00000233242.5:c.3425C>G MANE Select	ENSP00000233242.1:p.Ser1142Trp
ENST00000616098.4:c.3425C>G	ENSP00000477990.1:p.Ser1142Trp
NM_000384.2:c.3425C>G	NP_000375.2:p.Ser1142Trp
XM_011532809.1:c.3425C>G	XP_011531111.1:p.Ser1142Trp
NM_000384.3:c.3425C>G MANE Select	NP_000375.3:p.Ser1142Trp