Canonical Allele Identifier: CA913074741

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557740_40557741del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092068_40092069del , CM000663.2:g.40092068_40092069del	GRCh38
NC_000001.10:g.40557740_40557741del , CM000663.1:g.40557740_40557741del	GRCh37
NC_000001.9:g.40330327_40330328del	NCBI36
NG_009192.1:g.10402_10403del , LRG_690:g.10402_10403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*174_*175del	ENSP00000361865.5:n.*174_*175del
ENST00000433473.8:c.335_336del	ENSP00000394863.4:p.Gly112ValfsTer?
ENST00000439754.6:c.338_339del	ENSP00000403207.2:p.Gly113ValfsTer?
ENST00000449045.7:c.125-2557_125-2556del	ENSP00000392293.2:n.125-2557_125-2556del
ENST00000526547.2:c.618_619del
ENST00000527311.7:c.234+329_234+330del	ENSP00000436695.3:n.234+329_234+330del
ENST00000530704.6:c.338_339del	ENSP00000431655.1:p.Gly113ValfsTer?
ENST00000641083.1:c.316_317del
ENST00000641236.1:n.575_576del
ENST00000641319.1:c.338_339del	ENSP00000493128.1:p.Gly113ValfsTer?
ENST00000641471.1:c.425_426del	ENSP00000493146.1:p.Gly142ValfsTer?
ENST00000641548.1:c.*190_*191del	ENSP00000492984.1:n.*190_*191del
ENST00000641691.1:c.*190_*191del	ENSP00000492910.1:n.*190_*191del
ENST00000641924.1:c.124+5046_124+5047del	ENSP00000493063.1:n.124+5046_124+5047del
ENST00000642050.2:c.338_339del MANE Select	ENSP00000493153.1:p.Gly113ValfsTer?
ENST00000372779.8:c.425_426del	ENSP00000361865.4:p.Gly142ValfsTer?
ENST00000433473.7:c.338_339del	ENSP00000394863.3:p.Gly113ValfsTer?
ENST00000439754.5:c.23_24del	ENSP00000403207.1:p.Gly8ValfsTer?
ENST00000449045.6:c.125-2557_125-2556del	ENSP00000392293.2:n.125-2557_125-2556del
ENST00000526547.1:c.188_189del	ENSP00000436481.1:p.Gly63ValfsTer?
ENST00000527311.6:c.125-12_125-11del	ENSP00000436695.2:n.125-12_125-11del
ENST00000529905.5:c.338_339del	ENSP00000432053.1:p.Gly113ValfsTer?
ENST00000530704.5:c.338_339del	ENSP00000431655.1:p.Gly113ValfsTer?
NM_000310.3:c.338_339del , LRG_690t1:c.338_339del	NP_000301.1:p.Gly113ValfsTer?
NM_001142604.1:c.125-2557_125-2556del	NP_001136076.1:n.125-2557_125-2556del
XM_005271008.1:c.338_339del	XP_005271065.1:p.Gly113ValfsTer?
NM_001363695.1:c.338_339del	NP_001350624.1:p.Gly113ValfsTer?
NM_000310.4:c.338_339del MANE Select	NP_000301.1:p.Gly113ValfsTer?
NM_001142604.2:c.125-2557_125-2556del	NP_001136076.1:n.125-2557_125-2556del
NM_001363695.2:c.338_339del	NP_001350624.1:p.Gly113ValfsTer?