Canonical Allele Identifier: CA768426352

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1294153702
• gnomAD v4: 2-38075444-C-G
• MyVariant Identifiers: chr2:g.38302587C>G (hg19) ; chr2:g.38075444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075444C>G , CM000664.2:g.38075444C>G	GRCh38
NC_000002.11:g.38302587C>G , CM000664.1:g.38302587C>G	GRCh37
NC_000002.10:g.38156091C>G	NCBI36
NG_008386.2:g.5658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-55G>C	ENSP00000478839.2:n.-1-55G>C
ENST00000610745.5:c.-1-55G>C MANE Select	ENSP00000478561.1:n.-1-55G>C
ENST00000490576.1:c.-1-55G>C	ENSP00000478839.1:n.-1-55G>C
ENST00000494864.1:c.-70-4134G>C	ENSP00000479876.1:n.-70-4134G>C
ENST00000610745.4:c.-1-55G>C	ENSP00000478561.1:n.-1-55G>C
ENST00000613082.1:n.375+336G>C
ENST00000614273.1:c.-1-55G>C	ENSP00000483678.1:n.-1-55G>C
NM_000104.3:c.-1-55G>C	NP_000095.2:n.-1-55G>C
XM_011533236.1:c.58C>G	XP_011531538.1:p.Arg20Gly
NM_000104.4:c.-1-55G>C MANE Select	NP_000095.2:n.-1-55G>C