Canonical Allele Identifier: CA690332214

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1302534041
• MyVariant Identifiers: chr12:g.58159970_58159971insC (hg19) ; chr12:g.57766187_57766188insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766188dup , CM000674.2:g.57766188dup	GRCh38
NC_000012.11:g.58159971dup , CM000674.1:g.58159971dup	GRCh37
NC_000012.10:g.56446238dup	NCBI36
NG_007076.1:g.6006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.117dup
ENST00000713544.1:c.205dup	ENSP00000518840.1:p.Ala69GlyfsTer?
ENST00000713545.1:c.205dup	ENSP00000518841.1:p.Ala69GlyfsTer?
ENST00000228606.9:c.205dup MANE Select	ENSP00000228606.4:p.Ala69GlyfsTer?
ENST00000228606.8:c.205dup	ENSP00000228606.4:p.Ala69GlyfsTer?
ENST00000546496.1:n.33dup
ENST00000546609.1:c.117dup
ENST00000547344.5:n.259dup
ENST00000552186.1:n.324dup
NM_000785.3:c.205dup	NP_000776.1:p.Ala69GlyfsTer?
NM_000785.4:c.205dup MANE Select	NP_000776.1:p.Ala69GlyfsTer?