Canonical Allele Identifier: CA346329311

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1455945430
• gnomAD v2: 2-38302122-T-C
• MyVariant Identifiers: chr2:g.38302122T>C (hg19) ; chr2:g.38074979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074979T>C , CM000664.2:g.38074979T>C	GRCh38
NC_000002.11:g.38302122T>C , CM000664.1:g.38302122T>C	GRCh37
NC_000002.10:g.38155626T>C	NCBI36
NG_008386.2:g.6123A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.410A>G	ENSP00000478839.2:p.Tyr137Cys
ENST00000610745.5:c.410A>G MANE Select	ENSP00000478561.1:p.Tyr137Cys
ENST00000490576.1:c.410A>G	ENSP00000478839.1:p.Tyr137Cys
ENST00000494864.1:c.-70-3669A>G	ENSP00000479876.1:n.-70-3669A>G
ENST00000610745.4:c.410A>G	ENSP00000478561.1:p.Tyr137Cys
ENST00000613082.1:n.376-571A>G
ENST00000614273.1:c.410A>G	ENSP00000483678.1:p.Tyr137Cys
NM_000104.3:c.410A>G	NP_000095.2:p.Tyr137Cys
NM_000104.4:c.410A>G MANE Select	NP_000095.2:p.Tyr137Cys