Canonical Allele Identifier: CA058895

Gene: APOB

Linked Data

• ClinVar Variation Id: 334154
• ClinVar RCV Id: RCV000336589 ; RCV000379453 ; RCV001837866 ; RCV003477900 ; RCV002460070 ; RCV004544624
• dbSNP Id: rs201128198
• ExAC: 2:21238279 A / G
• gnomAD v2: 2-21238279-A-G
• gnomAD v3: 2-21015407-A-G
• gnomAD v4: 2-21015407-A-G
• MyVariant Identifiers: chr2:g.21238279A>G (hg19) ; chr2:g.21015407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015407A>G , CM000664.2:g.21015407A>G	GRCh38
NC_000002.11:g.21238279A>G , CM000664.1:g.21238279A>G	GRCh37
NC_000002.10:g.21091784A>G	NCBI36
NG_011793.1:g.33667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2777T>C	ENSP00000501110.2:n.*2777T>C
ENST00000673882.2:c.*2566T>C	ENSP00000501253.2:n.*2566T>C
ENST00000673739.1:c.3185T>C	ENSP00000501110.1:n.3185T>C
ENST00000673882.1:c.2974T>C	ENSP00000501253.1:n.2974T>C
ENST00000233242.5:c.3471T>C MANE Select	ENSP00000233242.1:p.Tyr1157=
ENST00000616098.4:c.3471T>C	ENSP00000477990.1:p.Tyr1157=
NM_000384.2:c.3471T>C	NP_000375.2:p.Tyr1157=
XM_011532809.1:c.3471T>C	XP_011531111.1:p.Tyr1157=
NM_000384.3:c.3471T>C MANE Select	NP_000375.3:p.Tyr1157=