Canonical Allele Identifier: CA346329590

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1365834549
• gnomAD v2: 2-38302261-T-C
• gnomAD v3: 2-38075118-T-C
• gnomAD v4: 2-38075118-T-C
• MyVariant Identifiers: chr2:g.38302261T>C (hg19) ; chr2:g.38075118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075118T>C , CM000664.2:g.38075118T>C	GRCh38
NC_000002.11:g.38302261T>C , CM000664.1:g.38302261T>C	GRCh37
NC_000002.10:g.38155765T>C	NCBI36
NG_008386.2:g.5984A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.271A>G	ENSP00000478839.2:p.Ser91Gly
ENST00000610745.5:c.271A>G MANE Select	ENSP00000478561.1:p.Ser91Gly
ENST00000490576.1:c.271A>G	ENSP00000478839.1:p.Ser91Gly
ENST00000494864.1:c.-70-3808A>G	ENSP00000479876.1:n.-70-3808A>G
ENST00000610745.4:c.271A>G	ENSP00000478561.1:p.Ser91Gly
ENST00000613082.1:n.375+662A>G
ENST00000614273.1:c.271A>G	ENSP00000483678.1:p.Ser91Gly
NM_000104.3:c.271A>G	NP_000095.2:p.Ser91Gly
NM_000104.4:c.271A>G MANE Select	NP_000095.2:p.Ser91Gly