Canonical Allele Identifier: CA425864721
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075062-C-T
MyVariant Identifiers: chr2:g.38302205C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075062C>T , CM000664.2:g.38075062C>T GRCh38
NC_000002.11:g.38302205C>T , CM000664.1:g.38302205C>T GRCh37
NC_000002.10:g.38155709C>T NCBI36
NG_008386.2:g.6040G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.327G>A ENSP00000478839.2:p.Gln109=
ENST00000610745.5:c.327G>A MANE Select ENSP00000478561.1:p.Gln109=
ENST00000490576.1:c.327G>A ENSP00000478839.1:p.Gln109=
ENST00000494864.1:c.-70-3752G>A ENSP00000479876.1:n.-70-3752G>A
ENST00000610745.4:c.327G>A ENSP00000478561.1:p.Gln109=
ENST00000613082.1:n.376-654G>A
ENST00000614273.1:c.327G>A ENSP00000483678.1:p.Gln109=
NM_000104.3:c.327G>A NP_000095.2:p.Gln109=
NM_000104.4:c.327G>A MANE Select NP_000095.2:p.Gln109=