Canonical Allele Identifier: CA2547238782
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21014859A>G , CM000664.2:g.21014859A>G GRCh38
NC_000002.11:g.21237731A>G , CM000664.1:g.21237731A>G GRCh37
NC_000002.10:g.21091236A>G NCBI36
NG_011793.1:g.34215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3002+214T>C ENSP00000501110.2:n.*3002+214T>C
ENST00000673882.2:c.*2791+214T>C ENSP00000501253.2:n.*2791+214T>C
ENST00000673739.1:c.3410+214T>C ENSP00000501110.1:n.3410+214T>C
ENST00000673882.1:c.3199+214T>C ENSP00000501253.1:n.3199+214T>C
ENST00000233242.5:c.3696+214T>C MANE Select ENSP00000233242.1:n.3696+214T>C
ENST00000616098.4:c.3696+214T>C ENSP00000477990.1:n.3696+214T>C
NM_000384.2:c.3696+214T>C NP_000375.2:n.3696+214T>C
XM_011532809.1:c.3696+214T>C XP_011531111.1:n.3696+214T>C
NM_000384.3:c.3696+214T>C MANE Select NP_000375.3:n.3696+214T>C