Canonical Allele Identifier: CA145183

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 68467
• ClinVar RCV Id: RCV000059338 ; RCV000175523 ; RCV000761427 ; RCV000986620 ; RCV001804801 ; RCV001513104
• dbSNP Id: rs57865060
• ExAC: 2:38301847 C / T
• gnomAD v2: 2-38301847-C-T
• gnomAD v3: 2-38074704-C-T
• gnomAD v4: 2-38074704-C-T
• MyVariant Identifiers: chr2:g.38301847C>T (hg19) ; chr2:g.38074704C>T (hg38)
• PubMed: PMID:11558822 ; PMID:21854771 ; PMID:24281366

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074704C>T , CM000664.2:g.38074704C>T	GRCh38
NC_000002.11:g.38301847C>T , CM000664.1:g.38301847C>T	GRCh37
NC_000002.10:g.38155351C>T	NCBI36
NG_008386.2:g.6398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.685G>A	ENSP00000478839.2:p.Glu229Lys
ENST00000610745.5:c.685G>A MANE Select	ENSP00000478561.1:p.Glu229Lys
ENST00000494864.1:c.-70-3394G>A	ENSP00000479876.1:n.-70-3394G>A
ENST00000610745.4:c.685G>A	ENSP00000478561.1:p.Glu229Lys
ENST00000613082.1:n.376-296G>A
ENST00000614273.1:c.685G>A	ENSP00000483678.1:p.Glu229Lys
NM_000104.3:c.685G>A	NP_000095.2:p.Glu229Lys
NM_000104.4:c.685G>A MANE Select	NP_000095.2:p.Glu229Lys