Canonical Allele Identifier: CA346330087

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1220917781
• gnomAD v2: 2-38302527-C-G
• gnomAD v3: 2-38075384-C-G
• gnomAD v4: 2-38075384-C-G
• MyVariant Identifiers: chr2:g.38302527C>G (hg19) ; chr2:g.38075384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075384C>G , CM000664.2:g.38075384C>G	GRCh38
NC_000002.11:g.38302527C>G , CM000664.1:g.38302527C>G	GRCh37
NC_000002.10:g.38156031C>G	NCBI36
NG_008386.2:g.5718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.5G>C	ENSP00000478839.2:p.Gly2Ala
ENST00000610745.5:c.5G>C MANE Select	ENSP00000478561.1:p.Gly2Ala
ENST00000490576.1:c.5G>C	ENSP00000478839.1:p.Gly2Ala
ENST00000494864.1:c.-70-4074G>C	ENSP00000479876.1:n.-70-4074G>C
ENST00000610745.4:c.5G>C	ENSP00000478561.1:p.Gly2Ala
ENST00000613082.1:n.375+396G>C
ENST00000614273.1:c.5G>C	ENSP00000483678.1:p.Gly2Ala
NM_000104.3:c.5G>C	NP_000095.2:p.Gly2Ala
NM_000104.4:c.5G>C MANE Select	NP_000095.2:p.Gly2Ala