Canonical Allele Identifier: CA346327375

Gene: CYP1B1

Linked Data

• MyVariant Identifiers: chr2:g.38298160A>T (hg19) ; chr2:g.38071017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071017A>T , CM000664.2:g.38071017A>T	GRCh38
NC_000002.11:g.38298160A>T , CM000664.1:g.38298160A>T	GRCh37
NC_000002.10:g.38151664A>T	NCBI36
NG_008386.2:g.10085T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1337T>A	ENSP00000478839.2:p.Leu446Ter
ENST00000610745.5:c.1337T>A MANE Select	ENSP00000478561.1:p.Leu446Ter
ENST00000492443.1:n.715T>A
ENST00000494864.1:c.224T>A	ENSP00000479876.1:p.Leu75Ter
ENST00000610745.4:c.1337T>A	ENSP00000478561.1:p.Leu446Ter
ENST00000614273.1:c.1337T>A	ENSP00000483678.1:p.Leu446Ter
NM_000104.3:c.1337T>A	NP_000095.2:p.Leu446Ter
NM_000104.4:c.1337T>A MANE Select	NP_000095.2:p.Leu446Ter