Canonical Allele Identifier: CA1620063
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2445851
ClinVar RCV Id: RCV003155770
dbSNP Id: rs769492120
ExAC: 2:38302248 A / G
gnomAD v2: 2-38302248-A-G
gnomAD v3: 2-38075105-A-G
gnomAD v4: 2-38075105-A-G
MyVariant Identifiers: chr2:g.38302248A>G (hg19) chr2:g.38075105A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075105A>G , CM000664.2:g.38075105A>G GRCh38
NC_000002.11:g.38302248A>G , CM000664.1:g.38302248A>G GRCh37
NC_000002.10:g.38155752A>G NCBI36
NG_008386.2:g.5997T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.284T>C ENSP00000478839.2:p.Val95Ala
ENST00000610745.5:c.284T>C MANE Select ENSP00000478561.1:p.Val95Ala
ENST00000490576.1:c.284T>C ENSP00000478839.1:p.Val95Ala
ENST00000494864.1:c.-70-3795T>C ENSP00000479876.1:n.-70-3795T>C
ENST00000610745.4:c.284T>C ENSP00000478561.1:p.Val95Ala
ENST00000613082.1:n.375+675T>C
ENST00000614273.1:c.284T>C ENSP00000483678.1:p.Val95Ala
NM_000104.3:c.284T>C NP_000095.2:p.Val95Ala
NM_000104.4:c.284T>C MANE Select NP_000095.2:p.Val95Ala
Search 100 bp 5'
Search 100 bp 3'