Canonical Allele Identifier: CA346003926
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21011058-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011058G>A , CM000664.2:g.21011058G>A GRCh38
NC_000002.11:g.21233930G>A , CM000664.1:g.21233930G>A GRCh37
NC_000002.10:g.21087435G>A NCBI36
NG_011793.1:g.38016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5810C>T MANE Select ENSP00000233242.1:p.Pro1937Leu
ENST00000616098.4:c.5810C>T ENSP00000477990.1:p.Pro1937Leu
NM_000384.2:c.5810C>T NP_000375.2:p.Pro1937Leu
XM_011532809.1:c.5810C>T XP_011531111.1:p.Pro1937Leu
NM_000384.3:c.5810C>T MANE Select NP_000375.3:p.Pro1937Leu