Canonical Allele Identifier: CA2580066422

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 1701377
• ClinVar RCV Id: RCV002276073
• dbSNP Id: rs2125314878

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071250_38071252delinsGAT , CM000664.2:g.38071250_38071252delinsGAT	GRCh38
NC_000002.11:g.38298393_38298395delinsGAT , CM000664.1:g.38298393_38298395delinsGAT	GRCh37
NC_000002.10:g.38151897_38151899delinsGAT	NCBI36
NG_008386.2:g.9850_9852delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1102_1104delinsATC	ENSP00000478839.2:p.Arg368Ile
ENST00000610745.5:c.1102_1104delinsATC MANE Select	ENSP00000478561.1:p.Arg368Ile
ENST00000492443.1:n.480_482delinsATC
ENST00000494864.1:c.-12_-10delinsATC	ENSP00000479876.1:n.-12_-10delinsATC
ENST00000610745.4:c.1102_1104delinsATC	ENSP00000478561.1:p.Arg368Ile
ENST00000613082.1:n.497_499delinsATC
ENST00000614273.1:c.1102_1104delinsATC	ENSP00000483678.1:p.Arg368Ile
NM_000104.3:c.1102_1104delinsATC	NP_000095.2:p.Arg368Ile
NM_000104.4:c.1102_1104delinsATC MANE Select	NP_000095.2:p.Arg368Ile