Canonical Allele Identifier: CA1619749
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501002
ClinVar RCV Id: RCV000591749 RCV001089022 RCV001137226 RCV001137227 RCV004543371
dbSNP Id: rs146770394
ExAC: 2:38297907 A / G
gnomAD v2: 2-38297907-A-G
gnomAD v3: 2-38070764-A-G
gnomAD v4: 2-38070764-A-G
MyVariant Identifiers: chr2:g.38297907A>G (hg19) chr2:g.38070764A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070764A>G , CM000664.2:g.38070764A>G GRCh38
NC_000002.11:g.38297907A>G , CM000664.1:g.38297907A>G GRCh37
NC_000002.10:g.38151411A>G NCBI36
NG_008386.2:g.10338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1590T>C ENSP00000478839.2:p.Asp530=
ENST00000610745.5:c.1590T>C MANE Select ENSP00000478561.1:p.Asp530=
ENST00000494864.1:c.477T>C ENSP00000479876.1:p.Asp159=
ENST00000610745.4:c.1590T>C ENSP00000478561.1:p.Asp530=
ENST00000614273.1:c.1590T>C ENSP00000483678.1:p.Asp530=
NM_000104.3:c.1590T>C NP_000095.2:p.Asp530=
NM_000104.4:c.1590T>C MANE Select NP_000095.2:p.Asp530=
Search 100 bp 5'
Search 100 bp 3'