Canonical Allele Identifier: CA346329667
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075162-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075162C>G , CM000664.2:g.38075162C>G GRCh38
NC_000002.11:g.38302305C>G , CM000664.1:g.38302305C>G GRCh37
NC_000002.10:g.38155809C>G NCBI36
NG_008386.2:g.5940G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.227G>C ENSP00000478839.2:p.Arg76Pro
ENST00000610745.5:c.227G>C MANE Select ENSP00000478561.1:p.Arg76Pro
ENST00000490576.1:c.227G>C ENSP00000478839.1:p.Arg76Pro
ENST00000494864.1:c.-70-3852G>C ENSP00000479876.1:n.-70-3852G>C
ENST00000610745.4:c.227G>C ENSP00000478561.1:p.Arg76Pro
ENST00000613082.1:n.375+618G>C
ENST00000614273.1:c.227G>C ENSP00000483678.1:p.Arg76Pro
NM_000104.3:c.227G>C NP_000095.2:p.Arg76Pro
NM_000104.4:c.227G>C MANE Select NP_000095.2:p.Arg76Pro