Canonical Allele Identifier: CA1620079
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs755768400
gnomAD v2: 2-38302296-C-T
gnomAD v3: 2-38075153-C-T
gnomAD v4: 2-38075153-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075153C>T , CM000664.2:g.38075153C>T GRCh38
NC_000002.11:g.38302296C>T , CM000664.1:g.38302296C>T GRCh37
NC_000002.10:g.38155800C>T NCBI36
NG_008386.2:g.5949G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.236G>A ENSP00000478839.2:p.Arg79Gln
ENST00000610745.5:c.236G>A MANE Select ENSP00000478561.1:p.Arg79Gln
ENST00000490576.1:c.236G>A ENSP00000478839.1:p.Arg79Gln
ENST00000494864.1:c.-70-3843G>A ENSP00000479876.1:n.-70-3843G>A
ENST00000610745.4:c.236G>A ENSP00000478561.1:p.Arg79Gln
ENST00000613082.1:n.375+627G>A
ENST00000614273.1:c.236G>A ENSP00000483678.1:p.Arg79Gln
NM_000104.3:c.236G>A NP_000095.2:p.Arg79Gln
NM_000104.4:c.236G>A MANE Select NP_000095.2:p.Arg79Gln