Canonical Allele Identifier: CA345988197
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21229790A>G (hg19) chr2:g.21006918A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006918A>G , CM000664.2:g.21006918A>G GRCh38
NC_000002.11:g.21229790A>G , CM000664.1:g.21229790A>G GRCh37
NC_000002.10:g.21083295A>G NCBI36
NG_011793.1:g.42156T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9950T>C MANE Select ENSP00000233242.1:p.Leu3317Pro
ENST00000616098.4:c.9950T>C ENSP00000477990.1:p.Leu3317Pro
NM_000384.2:c.9950T>C NP_000375.2:p.Leu3317Pro
XM_011532809.1:c.5869+3815T>C XP_011531111.1:n.5869+3815T>C
NM_000384.3:c.9950T>C MANE Select NP_000375.3:p.Leu3317Pro
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