Canonical Allele Identifier: CA45511721

Gene: CYP1B1

Linked Data

• dbSNP Id: rs72480436

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075206del , CM000664.2:g.38075206del	GRCh38
NC_000002.11:g.38302349del , CM000664.1:g.38302349del	GRCh37
NC_000002.10:g.38155853del	NCBI36
NG_008386.2:g.5898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.185del	ENSP00000478839.2:p.Asn62ThrfsTer?
ENST00000610745.5:c.185del MANE Select	ENSP00000478561.1:p.Asn62ThrfsTer?
ENST00000490576.1:c.185del	ENSP00000478839.1:p.Asn62ThrfsTer?
ENST00000494864.1:c.-70-3894del	ENSP00000479876.1:n.-70-3894del
ENST00000610745.4:c.185del	ENSP00000478561.1:p.Asn62ThrfsTer?
ENST00000613082.1:n.375+576del
ENST00000614273.1:c.185del	ENSP00000483678.1:p.Asn62ThrfsTer?
NM_000104.3:c.185del	NP_000095.2:p.Asn62ThrfsTer?
NM_000104.4:c.185del MANE Select	NP_000095.2:p.Asn62ThrfsTer?