Canonical Allele Identifier: CA346008774
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1162914283
gnomAD v3: 2-21015198-A-G
gnomAD v4: 2-21015198-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015198A>G , CM000664.2:g.21015198A>G GRCh38
NC_000002.11:g.21238070A>G , CM000664.1:g.21238070A>G GRCh37
NC_000002.10:g.21091575A>G NCBI36
NG_011793.1:g.33876T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2877T>C ENSP00000501110.2:n.*2877T>C
ENST00000673882.2:c.*2666T>C ENSP00000501253.2:n.*2666T>C
ENST00000673739.1:c.3285T>C ENSP00000501110.1:n.3285T>C
ENST00000673882.1:c.3074T>C ENSP00000501253.1:n.3074T>C
ENST00000233242.5:c.3571T>C MANE Select ENSP00000233242.1:p.Ser1191Pro
ENST00000616098.4:c.3571T>C ENSP00000477990.1:p.Ser1191Pro
NM_000384.2:c.3571T>C NP_000375.2:p.Ser1191Pro
XM_011532809.1:c.3571T>C XP_011531111.1:p.Ser1191Pro
NM_000384.3:c.3571T>C MANE Select NP_000375.3:p.Ser1191Pro