Canonical Allele Identifier: CA532236926

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1478061405
• gnomAD v2: 2-38302704-T-C
• gnomAD v3: 2-38075561-T-C
• gnomAD v4: 2-38075561-T-C
• MyVariant Identifiers: chr2:g.38302704T>C (hg19) ; chr2:g.38075561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075561T>C , CM000664.2:g.38075561T>C	GRCh38
NC_000002.11:g.38302704T>C , CM000664.1:g.38302704T>C	GRCh37
NC_000002.10:g.38156208T>C	NCBI36
NG_008386.2:g.5541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-172A>G	ENSP00000478839.2:n.-1-172A>G
ENST00000610745.5:c.-1-172A>G MANE Select	ENSP00000478561.1:n.-1-172A>G
ENST00000490576.1:c.-1-172A>G	ENSP00000478839.1:n.-1-172A>G
ENST00000494864.1:c.-70-4251A>G	ENSP00000479876.1:n.-70-4251A>G
ENST00000610745.4:c.-1-172A>G	ENSP00000478561.1:n.-1-172A>G
ENST00000613082.1:n.375+219A>G
ENST00000614273.1:c.-1-172A>G	ENSP00000483678.1:n.-1-172A>G
NM_000104.3:c.-1-172A>G	NP_000095.2:n.-1-172A>G
XM_011533236.1:c.175T>C	XP_011531538.1:p.Leu59=
NM_000104.4:c.-1-172A>G MANE Select	NP_000095.2:n.-1-172A>G