Canonical Allele Identifier: CA45511700

Gene: CYP1B1

Linked Data

• dbSNP Id: rs138260463
• MyVariant Identifiers: chr2:g.38302331_38302332insC (hg19) ; chr2:g.38075188_38075189insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075191dup , CM000664.2:g.38075191dup	GRCh38
NC_000002.11:g.38302334dup , CM000664.1:g.38302334dup	GRCh37
NC_000002.10:g.38155838dup	NCBI36
NG_008386.2:g.5913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.200dup	ENSP00000478839.2:p.Gln68ProfsTer?
ENST00000610745.5:c.200dup MANE Select	ENSP00000478561.1:p.Gln68ProfsTer?
ENST00000490576.1:c.200dup	ENSP00000478839.1:p.Gln68ProfsTer?
ENST00000494864.1:c.-70-3879dup	ENSP00000479876.1:n.-70-3879dup
ENST00000610745.4:c.200dup	ENSP00000478561.1:p.Gln68ProfsTer?
ENST00000613082.1:n.375+591dup
ENST00000614273.1:c.200dup	ENSP00000483678.1:p.Gln68ProfsTer?
NM_000104.3:c.200dup	NP_000095.2:p.Gln68ProfsTer?
NM_000104.4:c.200dup MANE Select	NP_000095.2:p.Gln68ProfsTer?