Canonical Allele Identifier: CA2586969059

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2734162
• ClinVar RCV Id: RCV003595580
• gnomAD v4: 2-38070975-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070978_38070979del , CM000664.2:g.38070978_38070979del	GRCh38
NC_000002.11:g.38298121_38298122del , CM000664.1:g.38298121_38298122del	GRCh37
NC_000002.10:g.38151625_38151626del	NCBI36
NG_008386.2:g.10125_10126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1377_1378del	ENSP00000478839.2:p.Arg459SerfsTer18
ENST00000610745.5:c.1377_1378del MANE Select	ENSP00000478561.1:p.Arg459SerfsTer18
ENST00000494864.1:c.264_265del	ENSP00000479876.1:p.Arg88SerfsTer18
ENST00000610745.4:c.1377_1378del	ENSP00000478561.1:p.Arg459SerfsTer18
ENST00000614273.1:c.1377_1378del	ENSP00000483678.1:p.Arg459SerfsTer18
NM_000104.3:c.1377_1378del	NP_000095.2:p.Arg459SerfsTer18
NM_000104.4:c.1377_1378del MANE Select	NP_000095.2:p.Arg459SerfsTer18