Canonical Allele Identifier: CA263475

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56180
• ClinVar RCV Id: RCV000049591
• dbSNP Id: rs386833632
• MyVariant Identifiers: chr1:g.40558169_40558171dupACA (hg19) ; chr1:g.40092497_40092499dupACA (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092497_40092499dup , CM000663.2:g.40092497_40092499dup	GRCh38
NC_000001.10:g.40558169_40558171dup , CM000663.1:g.40558169_40558171dup	GRCh37
NC_000001.9:g.40330756_40330758dup	NCBI36
NG_009192.1:g.9974_9976dup , LRG_690:g.9974_9976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.139_141dup	ENSP00000361865.5:p.Leu47_Gln48insLeu
ENST00000433473.8:c.132_134dup	ENSP00000394863.4:p.Cys45_Asn46insCys
ENST00000439754.6:c.135_137dup	ENSP00000403207.2:p.Cys46_Asn47insCys
ENST00000449045.7:c.125-2985_125-2983dup	ENSP00000392293.2:n.125-2985_125-2983dup
ENST00000526547.2:c.415_417dup
ENST00000527311.7:c.135_137dup	ENSP00000436695.3:p.Cys46_Asn47insCys
ENST00000530704.6:c.135_137dup	ENSP00000431655.1:p.Cys46_Asn47insCys
ENST00000641083.1:c.113_115dup
ENST00000641236.1:n.147_149dup
ENST00000641319.1:c.135_137dup	ENSP00000493128.1:p.Cys46_Asn47insCys
ENST00000641471.1:c.222_224dup	ENSP00000493146.1:p.Cys75_Asn76insCys
ENST00000641548.1:c.128_130dup	ENSP00000492984.1:p.Val43_Ala44insVal
ENST00000641691.1:c.128_130dup	ENSP00000492910.1:p.Val43_Ala44insVal
ENST00000641924.1:c.124+4618_124+4620dup	ENSP00000493063.1:n.124+4618_124+4620dup
ENST00000642050.2:c.135_137dup MANE Select	ENSP00000493153.1:p.Cys46_Asn47insCys
ENST00000372779.8:c.222_224dup	ENSP00000361865.4:p.Cys75_Asn76insCys
ENST00000433473.7:c.135_137dup	ENSP00000394863.3:p.Cys46_Asn47insCys
ENST00000449045.6:c.125-2985_125-2983dup	ENSP00000392293.2:n.125-2985_125-2983dup
ENST00000526547.1:c.-16_-14dup	ENSP00000436481.1:n.-16_-14dup
ENST00000527311.6:c.125-440_125-438dup	ENSP00000436695.2:n.125-440_125-438dup
ENST00000529905.5:c.135_137dup	ENSP00000432053.1:p.Cys46_Asn47insCys
ENST00000530704.5:c.135_137dup	ENSP00000431655.1:p.Cys46_Asn47insCys
NM_000310.3:c.135_137dup , LRG_690t1:c.135_137dup	NP_000301.1:p.Cys46_Asn47insCys
NM_001142604.1:c.125-2985_125-2983dup	NP_001136076.1:n.125-2985_125-2983dup
XM_005271008.1:c.135_137dup	XP_005271065.1:p.Cys46_Asn47insCys
NM_001363695.1:c.135_137dup	NP_001350624.1:p.Cys46_Asn47insCys
NM_000310.4:c.135_137dup MANE Select	NP_000301.1:p.Cys46_Asn47insCys
NM_001142604.2:c.125-2985_125-2983dup	NP_001136076.1:n.125-2985_125-2983dup
NM_001363695.2:c.135_137dup	NP_001350624.1:p.Cys46_Asn47insCys