Canonical Allele Identifier: CA1028212887
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663425478
gnomAD v3: 2-21014932-T-C
gnomAD v4: 2-21014932-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21014932T>C , CM000664.2:g.21014932T>C GRCh38
NC_000002.11:g.21237804T>C , CM000664.1:g.21237804T>C GRCh37
NC_000002.10:g.21091309T>C NCBI36
NG_011793.1:g.34142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3002+141A>G ENSP00000501110.2:n.*3002+141A>G
ENST00000673882.2:c.*2791+141A>G ENSP00000501253.2:n.*2791+141A>G
ENST00000673739.1:c.3410+141A>G ENSP00000501110.1:n.3410+141A>G
ENST00000673882.1:c.3199+141A>G ENSP00000501253.1:n.3199+141A>G
ENST00000233242.5:c.3696+141A>G MANE Select ENSP00000233242.1:n.3696+141A>G
ENST00000616098.4:c.3696+141A>G ENSP00000477990.1:n.3696+141A>G
NM_000384.2:c.3696+141A>G NP_000375.2:n.3696+141A>G
XM_011532809.1:c.3696+141A>G XP_011531111.1:n.3696+141A>G
NM_000384.3:c.3696+141A>G MANE Select NP_000375.3:n.3696+141A>G