Canonical Allele Identifier: CA275444

Gene: PPT1

Linked Data

• ClinVar Variation Id: 199010
• ClinVar RCV Id: RCV000180489 ; RCV001852250
• dbSNP Id: rs794727955
• MyVariant Identifiers: chr1:g.40539844del (hg19) ; chr1:g.40074172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074175del , CM000663.2:g.40074175del	GRCh38
NC_000001.10:g.40539847del , CM000663.1:g.40539847del	GRCh37
NC_000001.9:g.40312434del	NCBI36
NG_009192.1:g.28299del , LRG_690:g.28299del

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.807del	ENSP00000394863.4:p.Leu270Ter
ENST00000439754.6:c.738del	ENSP00000403207.2:p.Leu247Ter
ENST00000449045.7:c.501del	ENSP00000392293.2:p.Leu168Ter
ENST00000527311.7:c.579del	ENSP00000436695.3:p.Leu194Ter
ENST00000530076.6:c.153del	ENSP00000434007.1:p.Leu52Ter
ENST00000530704.6:c.*433del	ENSP00000431655.1:n.*433del
ENST00000641083.1:c.900del
ENST00000641236.1:n.1047del
ENST00000641319.1:c.*20del	ENSP00000493128.1:n.*20del
ENST00000641381.1:c.232del
ENST00000641471.1:c.897del	ENSP00000493146.1:p.Leu300Ter
ENST00000641691.1:c.*662del	ENSP00000492910.1:n.*662del
ENST00000641924.1:c.*239del	ENSP00000493063.1:n.*239del
ENST00000642050.2:c.810del MANE Select	ENSP00000493153.1:p.Leu271Ter
ENST00000372775.2:n.207del
ENST00000433473.7:c.810del	ENSP00000394863.3:p.Leu271Ter
ENST00000439754.5:c.423del	ENSP00000403207.1:p.Leu142Ter
ENST00000449045.6:c.501del	ENSP00000392293.2:p.Leu168Ter
ENST00000527311.6:c.585del	ENSP00000436695.2:p.Leu196Ter
ENST00000529905.5:c.810del	ENSP00000432053.1:p.Leu271Ter
ENST00000530076.5:c.153del	ENSP00000434007.1:p.Leu52Ter
ENST00000530704.5:c.*433del	ENSP00000431655.1:n.*433del
NM_000310.3:c.810del , LRG_690t1:c.810del	NP_000301.1:p.Leu271Ter
NM_001142604.1:c.501del	NP_001136076.1:p.Leu168Ter
XM_005271008.1:c.738del	XP_005271065.1:p.Leu247Ter
NM_001363695.1:c.738del	NP_001350624.1:p.Leu247Ter
NM_000310.4:c.810del MANE Select	NP_000301.1:p.Leu271Ter
NM_001142604.2:c.501del	NP_001136076.1:p.Leu168Ter
NM_001363695.2:c.738del	NP_001350624.1:p.Leu247Ter