Canonical Allele Identifier: CA1619822
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2987555
ClinVar RCV Id: RCV003841674
dbSNP Id: rs751992316
ExAC: 2:38298198 C / T
gnomAD v2: 2-38298198-C-T
gnomAD v4: 2-38071055-C-T
MyVariant Identifiers: chr2:g.38298198C>T (hg19) chr2:g.38071055C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071055C>T , CM000664.2:g.38071055C>T GRCh38
NC_000002.11:g.38298198C>T , CM000664.1:g.38298198C>T GRCh37
NC_000002.10:g.38151702C>T NCBI36
NG_008386.2:g.10047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1299G>A ENSP00000478839.2:p.Lys433=
ENST00000610745.5:c.1299G>A MANE Select ENSP00000478561.1:p.Lys433=
ENST00000492443.1:n.677G>A
ENST00000494864.1:c.186G>A ENSP00000479876.1:p.Lys62=
ENST00000610745.4:c.1299G>A ENSP00000478561.1:p.Lys433=
ENST00000614273.1:c.1299G>A ENSP00000483678.1:p.Lys433=
NM_000104.3:c.1299G>A NP_000095.2:p.Lys433=
NM_000104.4:c.1299G>A MANE Select NP_000095.2:p.Lys433=
Search 100 bp 5'
Search 100 bp 3'