Canonical Allele Identifier: CA346327711

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38071183-A-G
• MyVariant Identifiers: chr2:g.38298326A>G (hg19) ; chr2:g.38071183A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071183A>G , CM000664.2:g.38071183A>G	GRCh38
NC_000002.11:g.38298326A>G , CM000664.1:g.38298326A>G	GRCh37
NC_000002.10:g.38151830A>G	NCBI36
NG_008386.2:g.9919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1171T>C	ENSP00000478839.2:p.Phe391Leu
ENST00000610745.5:c.1171T>C MANE Select	ENSP00000478561.1:p.Phe391Leu
ENST00000492443.1:n.549T>C
ENST00000494864.1:c.58T>C	ENSP00000479876.1:p.Phe20Leu
ENST00000610745.4:c.1171T>C	ENSP00000478561.1:p.Phe391Leu
ENST00000613082.1:n.566T>C
ENST00000614273.1:c.1171T>C	ENSP00000483678.1:p.Phe391Leu
NM_000104.3:c.1171T>C	NP_000095.2:p.Phe391Leu
NM_000104.4:c.1171T>C MANE Select	NP_000095.2:p.Phe391Leu