Canonical Allele Identifier: CA346329945

Gene: CYP1B1

Linked Data

• MyVariant Identifiers: chr2:g.38302453G>T (hg19) ; chr2:g.38075310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075310G>T , CM000664.2:g.38075310G>T	GRCh38
NC_000002.11:g.38302453G>T , CM000664.1:g.38302453G>T	GRCh37
NC_000002.10:g.38155957G>T	NCBI36
NG_008386.2:g.5792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.79C>A	ENSP00000478839.2:p.Leu27Met
ENST00000610745.5:c.79C>A MANE Select	ENSP00000478561.1:p.Leu27Met
ENST00000490576.1:c.79C>A	ENSP00000478839.1:p.Leu27Met
ENST00000494864.1:c.-70-4000C>A	ENSP00000479876.1:n.-70-4000C>A
ENST00000610745.4:c.79C>A	ENSP00000478561.1:p.Leu27Met
ENST00000613082.1:n.375+470C>A
ENST00000614273.1:c.79C>A	ENSP00000483678.1:p.Leu27Met
NM_000104.3:c.79C>A	NP_000095.2:p.Leu27Met
NM_000104.4:c.79C>A MANE Select	NP_000095.2:p.Leu27Met