Canonical Allele Identifier: CA145182

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 7744
• ClinVar RCV Id: RCV000008185 ; RCV000059337 ; RCV000078126 ; RCV000766838 ; RCV001087298 ; RCV001139671 ; RCV001139670 ; RCV002470703
• dbSNP Id: rs9282671
• ExAC: 2:38302291 A / T
• gnomAD v2: 2-38302291-A-T
• gnomAD v3: 2-38075148-A-T
• gnomAD v4: 2-38075148-A-T
• MyVariant Identifiers: chr2:g.38302291A>T (hg19) ; chr2:g.38075148A>T (hg38)
• PubMed: PMID:15342693 ; PMID:18470941 ; PMID:23891399 ; PMID:24281366

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075148A>T , CM000664.2:g.38075148A>T	GRCh38
NC_000002.11:g.38302291A>T , CM000664.1:g.38302291A>T	GRCh37
NC_000002.10:g.38155795A>T	NCBI36
NG_008386.2:g.5954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.241T>A	ENSP00000478839.2:p.Tyr81Asn
ENST00000610745.5:c.241T>A MANE Select	ENSP00000478561.1:p.Tyr81Asn
ENST00000490576.1:c.241T>A	ENSP00000478839.1:p.Tyr81Asn
ENST00000494864.1:c.-70-3838T>A	ENSP00000479876.1:n.-70-3838T>A
ENST00000610745.4:c.241T>A	ENSP00000478561.1:p.Tyr81Asn
ENST00000613082.1:n.375+632T>A
ENST00000614273.1:c.241T>A	ENSP00000483678.1:p.Tyr81Asn
NM_000104.3:c.241T>A	NP_000095.2:p.Tyr81Asn
NM_000104.4:c.241T>A MANE Select	NP_000095.2:p.Tyr81Asn