Canonical Allele Identifier: CA45512434

Gene: CYP1B1

Linked Data

• dbSNP Id: rs162559
• gnomAD v2: 2-38302712-G-A
• gnomAD v3: 2-38075569-G-A
• gnomAD v4: 2-38075569-G-A
• MyVariant Identifiers: chr2:g.38302712G>A (hg19) ; chr2:g.38075569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075569G>A , CM000664.2:g.38075569G>A	GRCh38
NC_000002.11:g.38302712G>A , CM000664.1:g.38302712G>A	GRCh37
NC_000002.10:g.38156216G>A	NCBI36
NG_008386.2:g.5533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-180C>T	ENSP00000478839.2:n.-1-180C>T
ENST00000610745.5:c.-1-180C>T MANE Select	ENSP00000478561.1:n.-1-180C>T
ENST00000490576.1:c.-1-180C>T	ENSP00000478839.1:n.-1-180C>T
ENST00000494864.1:c.-70-4259C>T	ENSP00000479876.1:n.-70-4259C>T
ENST00000610745.4:c.-1-180C>T	ENSP00000478561.1:n.-1-180C>T
ENST00000613082.1:n.375+211C>T
ENST00000614273.1:c.-1-180C>T	ENSP00000483678.1:n.-1-180C>T
NM_000104.3:c.-1-180C>T	NP_000095.2:n.-1-180C>T
XM_011533236.1:c.183G>A	XP_011531538.1:p.Lys61=
NM_000104.4:c.-1-180C>T MANE Select	NP_000095.2:n.-1-180C>T