Canonical Allele Identifier: CA2586969066

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071144_38071153dup , CM000664.2:g.38071144_38071153dup	GRCh38
NC_000002.11:g.38298287_38298296dup , CM000664.1:g.38298287_38298296dup	GRCh37
NC_000002.10:g.38151791_38151800dup	NCBI36
NG_008386.2:g.9950_9959dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1202_1211dup	ENSP00000478839.2:p.Ala405CysfsTer29
ENST00000610745.5:c.1202_1211dup MANE Select	ENSP00000478561.1:p.Ala405CysfsTer29
ENST00000492443.1:n.580_589dup
ENST00000494864.1:c.89_98dup	ENSP00000479876.1:p.Ala34CysfsTer29
ENST00000610745.4:c.1202_1211dup	ENSP00000478561.1:p.Ala405CysfsTer29
ENST00000614273.1:c.1202_1211dup	ENSP00000483678.1:p.Ala405CysfsTer29
NM_000104.3:c.1202_1211dup	NP_000095.2:p.Ala405CysfsTer29
NM_000104.4:c.1202_1211dup MANE Select	NP_000095.2:p.Ala405CysfsTer29