Canonical Allele Identifier: CA1546520

Gene: APOB

Linked Data

• dbSNP Id: rs72654425
• ExAC: 2:21225055 G / C
• gnomAD v2: 2-21225055-G-C
• gnomAD v3: 2-21002183-G-C
• gnomAD v4: 2-21002183-G-C
• MyVariant Identifiers: chr2:g.21225055G>C (hg19) ; chr2:g.21225055_21225056delinsCT (hg19) ; chr2:g.21002183G>C (hg38) ; chr2:g.21002183_21002184delinsCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002183G>C , CM000664.2:g.21002183G>C	GRCh38
NC_000002.11:g.21225055G>C , CM000664.1:g.21225055G>C	GRCh37
NC_000002.10:g.21078560G>C	NCBI36
NG_011793.1:g.46891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13239C>G MANE Select	ENSP00000233242.1:p.Asn4413Lys
ENST00000616098.4:c.13237C>G	ENSP00000477990.1:n.13237C>G
NM_000384.2:c.13239C>G	NP_000375.2:p.Asn4413Lys
XM_011532809.1:c.5870-2910C>G	XP_011531111.1:n.5870-2910C>G
NM_000384.3:c.13239C>G MANE Select	NP_000375.3:p.Asn4413Lys