Canonical Allele Identifier: CA2586969058

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070963del , CM000664.2:g.38070963del	GRCh38
NC_000002.11:g.38298106del , CM000664.1:g.38298106del	GRCh37
NC_000002.10:g.38151610del	NCBI36
NG_008386.2:g.10139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1391del	ENSP00000478839.2:p.Ser464Ter
ENST00000610745.5:c.1391del MANE Select	ENSP00000478561.1:p.Ser464Ter
ENST00000494864.1:c.278del	ENSP00000479876.1:p.Ser93Ter
ENST00000610745.4:c.1391del	ENSP00000478561.1:p.Ser464Ter
ENST00000614273.1:c.1391del	ENSP00000483678.1:p.Ser464Ter
NM_000104.3:c.1391del	NP_000095.2:p.Ser464Ter
NM_000104.4:c.1391del MANE Select	NP_000095.2:p.Ser464Ter