Canonical Allele Identifier: CA768426346

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1315546802
• gnomAD v4: 2-38075442-G-A
• MyVariant Identifiers: chr2:g.38302585G>A (hg19) ; chr2:g.38075442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075442G>A , CM000664.2:g.38075442G>A	GRCh38
NC_000002.11:g.38302585G>A , CM000664.1:g.38302585G>A	GRCh37
NC_000002.10:g.38156089G>A	NCBI36
NG_008386.2:g.5660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-53C>T	ENSP00000478839.2:n.-1-53C>T
ENST00000610745.5:c.-1-53C>T MANE Select	ENSP00000478561.1:n.-1-53C>T
ENST00000490576.1:c.-1-53C>T	ENSP00000478839.1:n.-1-53C>T
ENST00000494864.1:c.-70-4132C>T	ENSP00000479876.1:n.-70-4132C>T
ENST00000610745.4:c.-1-53C>T	ENSP00000478561.1:n.-1-53C>T
ENST00000613082.1:n.375+338C>T
ENST00000614273.1:c.-1-53C>T	ENSP00000483678.1:n.-1-53C>T
NM_000104.3:c.-1-53C>T	NP_000095.2:n.-1-53C>T
XM_011533236.1:c.56G>A	XP_011531538.1:p.Gly19Glu
NM_000104.4:c.-1-53C>T MANE Select	NP_000095.2:n.-1-53C>T