Canonical Allele Identifier: CA346329538

Gene: CYP1B1

Linked Data

• dbSNP Id: rs867870281
• MyVariant Identifiers: chr2:g.38302234C>G (hg19) ; chr2:g.38075091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075091C>G , CM000664.2:g.38075091C>G	GRCh38
NC_000002.11:g.38302234C>G , CM000664.1:g.38302234C>G	GRCh37
NC_000002.10:g.38155738C>G	NCBI36
NG_008386.2:g.6011G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.298G>C	ENSP00000478839.2:p.Glu100Gln
ENST00000610745.5:c.298G>C MANE Select	ENSP00000478561.1:p.Glu100Gln
ENST00000490576.1:c.298G>C	ENSP00000478839.1:p.Glu100Gln
ENST00000494864.1:c.-70-3781G>C	ENSP00000479876.1:n.-70-3781G>C
ENST00000610745.4:c.298G>C	ENSP00000478561.1:p.Glu100Gln
ENST00000613082.1:n.376-683G>C
ENST00000614273.1:c.298G>C	ENSP00000483678.1:p.Glu100Gln
NM_000104.3:c.298G>C	NP_000095.2:p.Glu100Gln
NM_000104.4:c.298G>C MANE Select	NP_000095.2:p.Glu100Gln