Canonical Allele Identifier: CA764127436
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1202817035
gnomAD v3: 2-21014981-A-G
gnomAD v4: 2-21014981-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21014981A>G , CM000664.2:g.21014981A>G GRCh38
NC_000002.11:g.21237853A>G , CM000664.1:g.21237853A>G GRCh37
NC_000002.10:g.21091358A>G NCBI36
NG_011793.1:g.34093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3002+92T>C ENSP00000501110.2:n.*3002+92T>C
ENST00000673882.2:c.*2791+92T>C ENSP00000501253.2:n.*2791+92T>C
ENST00000673739.1:c.3410+92T>C ENSP00000501110.1:n.3410+92T>C
ENST00000673882.1:c.3199+92T>C ENSP00000501253.1:n.3199+92T>C
ENST00000233242.5:c.3696+92T>C MANE Select ENSP00000233242.1:n.3696+92T>C
ENST00000616098.4:c.3696+92T>C ENSP00000477990.1:n.3696+92T>C
NM_000384.2:c.3696+92T>C NP_000375.2:n.3696+92T>C
XM_011532809.1:c.3696+92T>C XP_011531111.1:n.3696+92T>C
NM_000384.3:c.3696+92T>C MANE Select NP_000375.3:n.3696+92T>C