Canonical Allele Identifier: CA532236935

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1183055903
• gnomAD v2: 2-38302335-ACCG-A
• gnomAD v4: 2-38075192-ACCG-A
• MyVariant Identifiers: chr2:g.38302336_38302338del (hg19) ; chr2:g.38075193_38075195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075200_38075202del , CM000664.2:g.38075200_38075202del	GRCh38
NC_000002.11:g.38302343_38302345del , CM000664.1:g.38302343_38302345del	GRCh37
NC_000002.10:g.38155847_38155849del	NCBI36
NG_008386.2:g.5907_5909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.194_196del	ENSP00000478839.2:p.Ala65del
ENST00000610745.5:c.194_196del MANE Select	ENSP00000478561.1:p.Ala65del
ENST00000490576.1:c.194_196del	ENSP00000478839.1:p.Ala65del
ENST00000494864.1:c.-70-3885_-70-3883del	ENSP00000479876.1:n.-70-3885_-70-3883del
ENST00000610745.4:c.194_196del	ENSP00000478561.1:p.Ala65del
ENST00000613082.1:n.375+585_375+587del
ENST00000614273.1:c.194_196del	ENSP00000483678.1:p.Ala65del
NM_000104.3:c.194_196del	NP_000095.2:p.Ala65del
NM_000104.4:c.194_196del MANE Select	NP_000095.2:p.Ala65del