Canonical Allele Identifier: CA1245628176

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1682507846

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075108_38075110del , CM000664.2:g.38075108_38075110del	GRCh38
NC_000002.11:g.38302251_38302253del , CM000664.1:g.38302251_38302253del	GRCh37
NC_000002.10:g.38155755_38155757del	NCBI36
NG_008386.2:g.5992_5994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.279_281del	ENSP00000478839.2:p.Ile94del
ENST00000610745.5:c.279_281del MANE Select	ENSP00000478561.1:p.Ile94del
ENST00000490576.1:c.279_281del	ENSP00000478839.1:p.Ile94del
ENST00000494864.1:c.-70-3800_-70-3798del	ENSP00000479876.1:n.-70-3800_-70-3798del
ENST00000610745.4:c.279_281del	ENSP00000478561.1:p.Ile94del
ENST00000613082.1:n.375+670_375+672del
ENST00000614273.1:c.279_281del	ENSP00000483678.1:p.Ile94del
NM_000104.3:c.279_281del	NP_000095.2:p.Ile94del
NM_000104.4:c.279_281del MANE Select	NP_000095.2:p.Ile94del