Canonical Allele Identifier: CA346329315

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1164996553
• gnomAD v2: 2-38302123-A-T
• gnomAD v4: 2-38074980-A-T
• MyVariant Identifiers: chr2:g.38302123A>T (hg19) ; chr2:g.38074980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074980A>T , CM000664.2:g.38074980A>T	GRCh38
NC_000002.11:g.38302123A>T , CM000664.1:g.38302123A>T	GRCh37
NC_000002.10:g.38155627A>T	NCBI36
NG_008386.2:g.6122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.409T>A	ENSP00000478839.2:p.Tyr137Asn
ENST00000610745.5:c.409T>A MANE Select	ENSP00000478561.1:p.Tyr137Asn
ENST00000490576.1:c.409T>A	ENSP00000478839.1:p.Tyr137Asn
ENST00000494864.1:c.-70-3670T>A	ENSP00000479876.1:n.-70-3670T>A
ENST00000610745.4:c.409T>A	ENSP00000478561.1:p.Tyr137Asn
ENST00000613082.1:n.376-572T>A
ENST00000614273.1:c.409T>A	ENSP00000483678.1:p.Tyr137Asn
NM_000104.3:c.409T>A	NP_000095.2:p.Tyr137Asn
NM_000104.4:c.409T>A MANE Select	NP_000095.2:p.Tyr137Asn