Canonical Allele Identifier: CA2695696113

Gene: PPT1

Linked Data

• dbSNP Id: rs2124488504

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092508_40092509insCA , CM000663.2:g.40092508_40092509insCA	GRCh38
NC_000001.10:g.40558180_40558181insCA , CM000663.1:g.40558180_40558181insCA	GRCh37
NC_000001.9:g.40330767_40330768insCA	NCBI36
NG_009192.1:g.9962_9963insTG , LRG_690:g.9962_9963insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-2_129-1insTG	ENSP00000361865.5:n.129-2_129-1insTG
ENST00000433473.8:c.125-5_125-4insTG	ENSP00000394863.4:n.125-5_125-4insTG
ENST00000439754.6:c.125-2_125-1insTG	ENSP00000403207.2:n.125-2_125-1insTG
ENST00000449045.7:c.125-2997_125-2996insTG	ENSP00000392293.2:n.125-2997_125-2996insTG
ENST00000526547.2:c.405-2_405-1insTG
ENST00000527311.7:c.125-2_125-1insTG	ENSP00000436695.3:n.125-2_125-1insTG
ENST00000530704.6:c.125-2_125-1insTG	ENSP00000431655.1:n.125-2_125-1insTG
ENST00000641083.1:c.103-2_103-1insTG
ENST00000641236.1:n.137-2_137-1insTG
ENST00000641319.1:c.125-2_125-1insTG	ENSP00000493128.1:n.125-2_125-1insTG
ENST00000641471.1:c.212-2_212-1insTG	ENSP00000493146.1:n.212-2_212-1insTG
ENST00000641548.1:c.125-9_125-8insTG	ENSP00000492984.1:n.125-9_125-8insTG
ENST00000641691.1:c.125-9_125-8insTG	ENSP00000492910.1:n.125-9_125-8insTG
ENST00000641924.1:c.124+4606_124+4607insTG	ENSP00000493063.1:n.124+4606_124+4607insTG
ENST00000642050.2:c.125-2_125-1insTG MANE Select	ENSP00000493153.1:n.125-2_125-1insTG
ENST00000372779.8:c.212-2_212-1insTG	ENSP00000361865.4:n.212-2_212-1insTG
ENST00000433473.7:c.125-2_125-1insTG	ENSP00000394863.3:n.125-2_125-1insTG
ENST00000449045.6:c.125-2997_125-2996insTG	ENSP00000392293.2:n.125-2997_125-2996insTG
ENST00000526547.1:c.-26-2_-26-1insTG	ENSP00000436481.1:n.-26-2_-26-1insTG
ENST00000527311.6:c.125-452_125-451insTG	ENSP00000436695.2:n.125-452_125-451insTG
ENST00000529905.5:c.125-2_125-1insTG	ENSP00000432053.1:n.125-2_125-1insTG
ENST00000530704.5:c.125-2_125-1insTG	ENSP00000431655.1:n.125-2_125-1insTG
NM_000310.3:c.125-2_125-1insTG , LRG_690t1:c.125-2_125-1insTG	NP_000301.1:n.125-2_125-1insTG
NM_001142604.1:c.125-2997_125-2996insTG	NP_001136076.1:n.125-2997_125-2996insTG
XM_005271008.1:c.125-2_125-1insTG	XP_005271065.1:n.125-2_125-1insTG
NM_001363695.1:c.125-2_125-1insTG	NP_001350624.1:n.125-2_125-1insTG
NM_000310.4:c.125-2_125-1insTG MANE Select	NP_000301.1:n.125-2_125-1insTG
NM_001142604.2:c.125-2997_125-2996insTG	NP_001136076.1:n.125-2997_125-2996insTG
NM_001363695.2:c.125-2_125-1insTG	NP_001350624.1:n.125-2_125-1insTG