Canonical Allele Identifier: CA119017

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071087T>A , CM000664.2:g.38071087T>A	GRCh38
NC_000002.11:g.38298230T>A , CM000664.1:g.38298230T>A	GRCh37
NC_000002.10:g.38151734T>A	NCBI36
NG_008386.2:g.10015A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000104.4:c.1267A>T MANE Select	NP_000095.2:p.Asn423Tyr
ENST00000610745.5:c.1267A>T MANE Select	ENSP00000478561.1:p.Asn423Tyr
NM_000104.3:c.1267A>T	NP_000095.2:p.Asn423Tyr
ENST00000490576.2:c.1267A>T	ENSP00000478839.2:p.Asn423Tyr
ENST00000492443.1:n.645A>T
ENST00000494864.1:c.154A>T	ENSP00000479876.1:p.Asn52Tyr
ENST00000610745.4:c.1267A>T	ENSP00000478561.1:p.Asn423Tyr
ENST00000614273.1:c.1267A>T	ENSP00000483678.1:p.Asn423Tyr