Canonical Allele Identifier: CA425864363

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2799341
• ClinVar RCV Id: RCV003760649
• gnomAD v4: 2-38071001-G-A
• MyVariant Identifiers: chr2:g.38298144G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071001G>A , CM000664.2:g.38071001G>A	GRCh38
NC_000002.11:g.38298144G>A , CM000664.1:g.38298144G>A	GRCh37
NC_000002.10:g.38151648G>A	NCBI36
NG_008386.2:g.10101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1353C>T	ENSP00000478839.2:p.Leu451=
ENST00000610745.5:c.1353C>T MANE Select	ENSP00000478561.1:p.Leu451=
ENST00000492443.1:n.731C>T
ENST00000494864.1:c.240C>T	ENSP00000479876.1:p.Leu80=
ENST00000610745.4:c.1353C>T	ENSP00000478561.1:p.Leu451=
ENST00000614273.1:c.1353C>T	ENSP00000483678.1:p.Leu451=
NM_000104.3:c.1353C>T	NP_000095.2:p.Leu451=
NM_000104.4:c.1353C>T MANE Select	NP_000095.2:p.Leu451=