Canonical Allele Identifier: CA425864518

Gene: CYP1B1

Linked Data

• dbSNP Id: rs758353407
• gnomAD v4: 2-38071088-G-T
• MyVariant Identifiers: chr2:g.38298231G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071088G>T , CM000664.2:g.38071088G>T	GRCh38
NC_000002.11:g.38298231G>T , CM000664.1:g.38298231G>T	GRCh37
NC_000002.10:g.38151735G>T	NCBI36
NG_008386.2:g.10014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1266C>A	ENSP00000478839.2:p.Val422=
ENST00000610745.5:c.1266C>A MANE Select	ENSP00000478561.1:p.Val422=
ENST00000492443.1:n.644C>A
ENST00000494864.1:c.153C>A	ENSP00000479876.1:p.Val51=
ENST00000610745.4:c.1266C>A	ENSP00000478561.1:p.Val422=
ENST00000614273.1:c.1266C>A	ENSP00000483678.1:p.Val422=
NM_000104.3:c.1266C>A	NP_000095.2:p.Val422=
NM_000104.4:c.1266C>A MANE Select	NP_000095.2:p.Val422=