Canonical Allele Identifier: CA45512417

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1055129194
• gnomAD v3: 2-38075560-C-G
• gnomAD v4: 2-38075560-C-G
• MyVariant Identifiers: chr2:g.38302703C>G (hg19) ; chr2:g.38075560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075560C>G , CM000664.2:g.38075560C>G	GRCh38
NC_000002.11:g.38302703C>G , CM000664.1:g.38302703C>G	GRCh37
NC_000002.10:g.38156207C>G	NCBI36
NG_008386.2:g.5542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-171G>C	ENSP00000478839.2:n.-1-171G>C
ENST00000610745.5:c.-1-171G>C MANE Select	ENSP00000478561.1:n.-1-171G>C
ENST00000490576.1:c.-1-171G>C	ENSP00000478839.1:n.-1-171G>C
ENST00000494864.1:c.-70-4250G>C	ENSP00000479876.1:n.-70-4250G>C
ENST00000610745.4:c.-1-171G>C	ENSP00000478561.1:n.-1-171G>C
ENST00000613082.1:n.375+220G>C
ENST00000614273.1:c.-1-171G>C	ENSP00000483678.1:n.-1-171G>C
NM_000104.3:c.-1-171G>C	NP_000095.2:n.-1-171G>C
XM_011533236.1:c.174C>G	XP_011531538.1:p.Pro58=
NM_000104.4:c.-1-171G>C MANE Select	NP_000095.2:n.-1-171G>C