Canonical Allele Identifier: CA346008961

Gene: APOB

Linked Data

• gnomAD v4: 2-21015379-A-T
• MyVariant Identifiers: chr2:g.21238251A>T (hg19) ; chr2:g.21015379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015379A>T , CM000664.2:g.21015379A>T	GRCh38
NC_000002.11:g.21238251A>T , CM000664.1:g.21238251A>T	GRCh37
NC_000002.10:g.21091756A>T	NCBI36
NG_011793.1:g.33695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2805T>A	ENSP00000501110.2:n.*2805T>A
ENST00000673882.2:c.*2594T>A	ENSP00000501253.2:n.*2594T>A
ENST00000673739.1:c.3213T>A	ENSP00000501110.1:n.3213T>A
ENST00000673882.1:c.3002T>A	ENSP00000501253.1:n.3002T>A
ENST00000233242.5:c.3499T>A MANE Select	ENSP00000233242.1:p.Trp1167Arg
ENST00000616098.4:c.3499T>A	ENSP00000477990.1:p.Trp1167Arg
NM_000384.2:c.3499T>A	NP_000375.2:p.Trp1167Arg
XM_011532809.1:c.3499T>A	XP_011531111.1:p.Trp1167Arg
NM_000384.3:c.3499T>A MANE Select	NP_000375.3:p.Trp1167Arg