Canonical Allele Identifier: CA1245628226

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1682510717

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075183_38075190del , CM000664.2:g.38075183_38075190del	GRCh38
NC_000002.11:g.38302326_38302333del , CM000664.1:g.38302326_38302333del	GRCh37
NC_000002.10:g.38155830_38155837del	NCBI36
NG_008386.2:g.5915_5922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.202_209del	ENSP00000478839.2:p.Gln68SerfsTer?
ENST00000610745.5:c.202_209del MANE Select	ENSP00000478561.1:p.Gln68SerfsTer?
ENST00000490576.1:c.202_209del	ENSP00000478839.1:p.Gln68SerfsTer?
ENST00000494864.1:c.-70-3877_-70-3870del	ENSP00000479876.1:n.-70-3877_-70-3870del
ENST00000610745.4:c.202_209del	ENSP00000478561.1:p.Gln68SerfsTer?
ENST00000613082.1:n.375+593_375+600del
ENST00000614273.1:c.202_209del	ENSP00000483678.1:p.Gln68SerfsTer?
NM_000104.3:c.202_209del	NP_000095.2:p.Gln68SerfsTer?
NM_000104.4:c.202_209del MANE Select	NP_000095.2:p.Gln68SerfsTer?