Canonical Allele Identifier: CA237815596

Gene: CYP27B1

Linked Data

• dbSNP Id: rs989269967
• MyVariant Identifiers: chr12:g.58159826_58159827insGG (hg19) ; chr12:g.57766043_57766044insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766044_57766045dup , CM000674.2:g.57766044_57766045dup	GRCh38
NC_000012.11:g.58159827_58159828dup , CM000674.1:g.58159827_58159828dup	GRCh37
NC_000012.10:g.56446094_56446095dup	NCBI36
NG_007076.1:g.6149_6150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.260_261dup
ENST00000713544.1:c.348_349dup	ENSP00000518840.1:p.Arg117ProfsTer?
ENST00000713545.1:c.348_349dup	ENSP00000518841.1:p.Arg117ProfsTer?
ENST00000228606.9:c.348_349dup MANE Select	ENSP00000228606.4:p.Arg117ProfsTer?
ENST00000228606.8:c.348_349dup	ENSP00000228606.4:p.Arg117ProfsTer?
ENST00000546496.1:n.176_177dup
ENST00000546609.1:c.260_261dup
ENST00000547344.5:n.402_403dup
ENST00000552186.1:n.467_468dup
NM_000785.3:c.348_349dup	NP_000776.1:p.Arg117ProfsTer?
NM_000785.4:c.348_349dup MANE Select	NP_000776.1:p.Arg117ProfsTer?