Canonical Allele Identifier: CA425865343

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1375287723
• gnomAD v2: 2-38302139-G-A
• gnomAD v4: 2-38074996-G-A
• MyVariant Identifiers: chr2:g.38302139G>A (hg19) ; chr2:g.38074996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074996G>A , CM000664.2:g.38074996G>A	GRCh38
NC_000002.11:g.38302139G>A , CM000664.1:g.38302139G>A	GRCh37
NC_000002.10:g.38155643G>A	NCBI36
NG_008386.2:g.6106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.393C>T	ENSP00000478839.2:p.Ser131=
ENST00000610745.5:c.393C>T MANE Select	ENSP00000478561.1:p.Ser131=
ENST00000490576.1:c.393C>T	ENSP00000478839.1:p.Ser131=
ENST00000494864.1:c.-70-3686C>T	ENSP00000479876.1:n.-70-3686C>T
ENST00000610745.4:c.393C>T	ENSP00000478561.1:p.Ser131=
ENST00000613082.1:n.376-588C>T
ENST00000614273.1:c.393C>T	ENSP00000483678.1:p.Ser131=
NM_000104.3:c.393C>T	NP_000095.2:p.Ser131=
NM_000104.4:c.393C>T MANE Select	NP_000095.2:p.Ser131=