Canonical Allele Identifier: CA16616902
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417858
ClinVar RCV Id: RCV000477808
dbSNP Id: rs1064792896

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071279_38071291del , CM000664.2:g.38071279_38071291del GRCh38
NC_000002.11:g.38298422_38298434del , CM000664.1:g.38298422_38298434del GRCh37
NC_000002.10:g.38151926_38151938del NCBI36
NG_008386.2:g.9811_9823del

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1063_1075del ENSP00000478839.2:p.Arg355AsnfsTer?
ENST00000610745.5:c.1063_1075del MANE Select ENSP00000478561.1:p.Arg355AsnfsTer?
ENST00000492443.1:n.441_453del
ENST00000494864.1:c.-51_-39del ENSP00000479876.1:n.-51_-39del
ENST00000610745.4:c.1063_1075del ENSP00000478561.1:p.Arg355AsnfsTer?
ENST00000613082.1:n.458_470del
ENST00000614273.1:c.1063_1075del ENSP00000483678.1:p.Arg355AsnfsTer?
NM_000104.3:c.1063_1075del NP_000095.2:p.Arg355AsnfsTer?
NM_000104.4:c.1063_1075del MANE Select NP_000095.2:p.Arg355AsnfsTer?