Canonical Allele Identifier: CA346329441

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075043-C-A
• MyVariant Identifiers: chr2:g.38302186C>A (hg19) ; chr2:g.38075043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075043C>A , CM000664.2:g.38075043C>A	GRCh38
NC_000002.11:g.38302186C>A , CM000664.1:g.38302186C>A	GRCh37
NC_000002.10:g.38155690C>A	NCBI36
NG_008386.2:g.6059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.346G>T	ENSP00000478839.2:p.Asp116Tyr
ENST00000610745.5:c.346G>T MANE Select	ENSP00000478561.1:p.Asp116Tyr
ENST00000490576.1:c.346G>T	ENSP00000478839.1:p.Asp116Tyr
ENST00000494864.1:c.-70-3733G>T	ENSP00000479876.1:n.-70-3733G>T
ENST00000610745.4:c.346G>T	ENSP00000478561.1:p.Asp116Tyr
ENST00000613082.1:n.376-635G>T
ENST00000614273.1:c.346G>T	ENSP00000483678.1:p.Asp116Tyr
NM_000104.3:c.346G>T	NP_000095.2:p.Asp116Tyr
NM_000104.4:c.346G>T MANE Select	NP_000095.2:p.Asp116Tyr