Canonical Allele Identifier: CA789749

Gene: PPT1

Linked Data

• dbSNP Id: rs752256517
• ExAC: 1:40557753 T / TATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGAC
• MyVariant Identifiers: chr1:g.40557753_40557754insATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGAC (hg19) ; chr1:g.40092081_40092082insATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092082_40092083insTTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACA , CM000663.2:g.40092082_40092083insTTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACA	GRCh38
NC_000001.10:g.40557754_40557755insTTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACA , CM000663.1:g.40557754_40557755insTTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACA	GRCh37
NC_000001.9:g.40330341_40330342insTTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACA	NCBI36
NG_009192.1:g.10389_10390insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT , LRG_690:g.10389_10390insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*161_*162insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000361865.5:n.*161_*162insGTCCTATGGGAATTTTTCAGAGGATAAAG...
ENST00000433473.8:c.322_323insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000394863.4:p.Tyr108CysfsTer11
ENST00000439754.6:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000403207.2:p.Tyr109CysfsTer11
ENST00000449045.7:c.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000392293.2:n.125-2570_125-2569insGTCCTATGGGAATTTTTCAGA...
ENST00000526547.2:c.605_606insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT
ENST00000527311.7:c.234+316_234+317insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000436695.3:n.234+316_234+317insGTCCTATGGGAATTTTTCAGAGG...
ENST00000530704.6:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000431655.1:p.Tyr109CysfsTer11
ENST00000641083.1:c.303_304insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT
ENST00000641236.1:n.562_563insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT
ENST00000641319.1:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000493128.1:p.Tyr109CysfsTer11
ENST00000641471.1:c.412_413insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000493146.1:p.Tyr138CysfsTer11
ENST00000641548.1:c.*177_*178insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000492984.1:n.*177_*178insGTCCTATGGGAATTTTTCAGAGGATAAAG...
ENST00000641691.1:c.*177_*178insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000492910.1:n.*177_*178insGTCCTATGGGAATTTTTCAGAGGATAAAG...
ENST00000641924.1:c.124+5033_124+5034insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000493063.1:n.124+5033_124+5034insGTCCTATGGGAATTTTTCAGA...
ENST00000642050.2:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT MANE Select	ENSP00000493153.1:p.Tyr109CysfsTer11
ENST00000372779.8:c.412_413insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000361865.4:p.Tyr138CysfsTer11
ENST00000433473.7:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000394863.3:p.Tyr109CysfsTer11
ENST00000439754.5:c.10_11insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000403207.1:p.Tyr4CysfsTer11
ENST00000449045.6:c.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000392293.2:n.125-2570_125-2569insGTCCTATGGGAATTTTTCAGA...
ENST00000526547.1:c.175_176insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000436481.1:p.Tyr59CysfsTer11
ENST00000527311.6:c.125-25_125-24insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000436695.2:n.125-25_125-24insGTCCTATGGGAATTTTTCAGAGGAT...
ENST00000529905.5:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000432053.1:p.Tyr109CysfsTer11
ENST00000530704.5:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	ENSP00000431655.1:p.Tyr109CysfsTer11
NM_000310.3:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT , LRG_690t1:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	NP_000301.1:p.Tyr109CysfsTer11
NM_001142604.1:c.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	NP_001136076.1:n.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGA...
XM_005271008.1:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	XP_005271065.1:p.Tyr109CysfsTer11
NM_001363695.1:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	NP_001350624.1:p.Tyr109CysfsTer11
NM_000310.4:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT MANE Select	NP_000301.1:p.Tyr109CysfsTer11
NM_001142604.2:c.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	NP_001136076.1:n.125-2570_125-2569insGTCCTATGGGAATTTTTCAGAGGA...
NM_001363695.2:c.325_326insGTCCTATGGGAATTTTTCAGAGGATAAAGTGAAATAATAGGTAGGAAAAT	NP_001350624.1:p.Tyr109CysfsTer11