Canonical Allele Identifier: CA145181

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 68466
• ClinVar RCV Id: RCV001200040 ; RCV001250448 ; RCV002228168 ; RCV002477209 ; RCV003398650 ; RCV003466929
• dbSNP Id: rs587778873
• ExAC: 2:38298287 T / TGGTGGCATGA
• gnomAD v2: 2-38298287-T-TGGTGGCATGA
• gnomAD v3: 2-38071144-T-TGGTGGCATGA
• gnomAD v4: 2-38071144-T-TGGTGGCATGA
• COSMIC: COSM1683599
• MyVariant Identifiers: chr2:g.38298288_38298297dupGGTGGCATGA (hg19) ; chr2:g.38298287_38298288insGGTGGCATGA (hg19) ; chr2:g.38071145_38071154dupGGTGGCATGA (hg38) ; chr2:g.38071144_38071145insGGTGGCATGA (hg38)
• PubMed: PMID:24281366

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071147_38071156dup , CM000664.2:g.38071147_38071156dup	GRCh38
NC_000002.11:g.38298290_38298299dup , CM000664.1:g.38298290_38298299dup	GRCh37
NC_000002.10:g.38151794_38151803dup	NCBI36
NG_008386.2:g.9948_9957dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1200_1209dup	ENSP00000478839.2:p.Thr404SerfsTer30
ENST00000610745.5:c.1200_1209dup MANE Select	ENSP00000478561.1:p.Thr404SerfsTer30
ENST00000492443.1:n.578_587dup
ENST00000494864.1:c.87_96dup	ENSP00000479876.1:p.Thr33SerfsTer30
ENST00000610745.4:c.1200_1209dup	ENSP00000478561.1:p.Thr404SerfsTer30
ENST00000614273.1:c.1200_1209dup	ENSP00000483678.1:p.Thr404SerfsTer30
NM_000104.3:c.1200_1209dup	NP_000095.2:p.Thr404SerfsTer30
NM_000104.4:c.1200_1209dup MANE Select	NP_000095.2:p.Thr404SerfsTer30