Canonical Allele Identifier: CA145183
Gene: CYP1B1 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'