Canonical Allele Identifier: CA2831038814

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071235_38071236dup , CM000664.2:g.38071235_38071236dup	GRCh38
NC_000002.11:g.38298378_38298379dup , CM000664.1:g.38298378_38298379dup	GRCh37
NC_000002.10:g.38151882_38151883dup	NCBI36
NG_008386.2:g.9867_9868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1119_1120dup	ENSP00000478839.2:p.Asp374ValfsTer?
ENST00000610745.5:c.1119_1120dup MANE Select	ENSP00000478561.1:p.Asp374ValfsTer?
ENST00000492443.1:n.497_498dup
ENST00000494864.1:c.6_7dup	ENSP00000479876.1:p.Asp3ValfsTer?
ENST00000610745.4:c.1119_1120dup	ENSP00000478561.1:p.Asp374ValfsTer?
ENST00000613082.1:n.514_515dup
ENST00000614273.1:c.1119_1120dup	ENSP00000483678.1:p.Asp374ValfsTer?
NM_000104.3:c.1119_1120dup	NP_000095.2:p.Asp374ValfsTer?
NM_000104.4:c.1119_1120dup MANE Select	NP_000095.2:p.Asp374ValfsTer?