Canonical Allele Identifier: CA345966915
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21224666T>A (hg19) chr2:g.21001794T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001794T>A , CM000664.2:g.21001794T>A GRCh38
NC_000002.11:g.21224666T>A , CM000664.1:g.21224666T>A GRCh37
NC_000002.10:g.21078171T>A NCBI36
NG_011793.1:g.47280A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13628A>T MANE Select ENSP00000233242.1:p.Gln4543Leu
ENST00000616098.4:c.13626A>T ENSP00000477990.1:n.13626A>T
NM_000384.2:c.13628A>T NP_000375.2:p.Gln4543Leu
XM_011532809.1:c.5870-2521A>T XP_011531111.1:n.5870-2521A>T
NM_000384.3:c.13628A>T MANE Select NP_000375.3:p.Gln4543Leu
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