Canonical Allele Identifier: CA346329020

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1296202698
• gnomAD v2: 2-38301985-G-A
• gnomAD v4: 2-38074842-G-A
• MyVariant Identifiers: chr2:g.38301985G>A (hg19) ; chr2:g.38074842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074842G>A , CM000664.2:g.38074842G>A	GRCh38
NC_000002.11:g.38301985G>A , CM000664.1:g.38301985G>A	GRCh37
NC_000002.10:g.38155489G>A	NCBI36
NG_008386.2:g.6260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.547C>T	ENSP00000478839.2:p.Arg183Cys
ENST00000610745.5:c.547C>T MANE Select	ENSP00000478561.1:p.Arg183Cys
ENST00000494864.1:c.-70-3532C>T	ENSP00000479876.1:n.-70-3532C>T
ENST00000610745.4:c.547C>T	ENSP00000478561.1:p.Arg183Cys
ENST00000613082.1:n.376-434C>T
ENST00000614273.1:c.547C>T	ENSP00000483678.1:p.Arg183Cys
NM_000104.3:c.547C>T	NP_000095.2:p.Arg183Cys
NM_000104.4:c.547C>T MANE Select	NP_000095.2:p.Arg183Cys