Canonical Allele Identifier: CA346327311

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1358698724
• gnomAD v3: 2-38070987-A-T
• gnomAD v4: 2-38070987-A-T
• MyVariant Identifiers: chr2:g.38298130A>T (hg19) ; chr2:g.38070987A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070987A>T , CM000664.2:g.38070987A>T	GRCh38
NC_000002.11:g.38298130A>T , CM000664.1:g.38298130A>T	GRCh37
NC_000002.10:g.38151634A>T	NCBI36
NG_008386.2:g.10115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1367T>A	ENSP00000478839.2:p.Leu456Gln
ENST00000610745.5:c.1367T>A MANE Select	ENSP00000478561.1:p.Leu456Gln
ENST00000492443.1:n.745T>A
ENST00000494864.1:c.254T>A	ENSP00000479876.1:p.Leu85Gln
ENST00000610745.4:c.1367T>A	ENSP00000478561.1:p.Leu456Gln
ENST00000614273.1:c.1367T>A	ENSP00000483678.1:p.Leu456Gln
NM_000104.3:c.1367T>A	NP_000095.2:p.Leu456Gln
NM_000104.4:c.1367T>A MANE Select	NP_000095.2:p.Leu456Gln