Canonical Allele Identifier: CA346327075
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38298020A>T (hg19) chr2:g.38070877A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070877A>T , CM000664.2:g.38070877A>T GRCh38
NC_000002.11:g.38298020A>T , CM000664.1:g.38298020A>T GRCh37
NC_000002.10:g.38151524A>T NCBI36
NG_008386.2:g.10225T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1477T>A ENSP00000478839.2:p.Phe493Ile
ENST00000610745.5:c.1477T>A MANE Select ENSP00000478561.1:p.Phe493Ile
ENST00000494864.1:c.364T>A ENSP00000479876.1:p.Phe122Ile
ENST00000610745.4:c.1477T>A ENSP00000478561.1:p.Phe493Ile
ENST00000614273.1:c.1477T>A ENSP00000483678.1:p.Phe493Ile
NM_000104.3:c.1477T>A NP_000095.2:p.Phe493Ile
NM_000104.4:c.1477T>A MANE Select NP_000095.2:p.Phe493Ile
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