Canonical Allele Identifier: CA2645090623

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074068-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074069_40074070dup , CM000663.2:g.40074069_40074070dup	GRCh38
NC_000001.10:g.40539741_40539742dup , CM000663.1:g.40539741_40539742dup	GRCh37
NC_000001.9:g.40312328_40312329dup	NCBI36
NG_009192.1:g.28401_28402dup , LRG_690:g.28401_28402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.909_910dup	ENSP00000394863.4:p.Leu304ProfsTer?
ENST00000439754.6:c.840_841dup	ENSP00000403207.2:p.Leu281ProfsTer?
ENST00000449045.7:c.603_604dup	ENSP00000392293.2:p.Leu202ProfsTer?
ENST00000530076.6:c.255_256dup	ENSP00000434007.1:p.Leu86ProfsTer?
ENST00000530704.6:c.*535_*536dup	ENSP00000431655.1:n.*535_*536dup
ENST00000641083.1:c.1002_1003dup
ENST00000641236.1:n.1149_1150dup
ENST00000641319.1:c.*122_*123dup	ENSP00000493128.1:n.*122_*123dup
ENST00000641381.1:c.334_335dup
ENST00000641471.1:c.999_1000dup	ENSP00000493146.1:p.Leu334ProfsTer?
ENST00000641691.1:c.*764_*765dup	ENSP00000492910.1:n.*764_*765dup
ENST00000641924.1:c.*341_*342dup	ENSP00000493063.1:n.*341_*342dup
ENST00000642050.2:c.912_913dup MANE Select	ENSP00000493153.1:p.Leu305ProfsTer?
ENST00000372775.2:n.309_310dup
ENST00000433473.7:c.912_913dup	ENSP00000394863.3:p.Leu305ProfsTer?
ENST00000439754.5:c.525_526dup	ENSP00000403207.1:p.Leu176ProfsTer?
ENST00000449045.6:c.603_604dup	ENSP00000392293.2:p.Leu202ProfsTer?
ENST00000529905.5:c.912_913dup	ENSP00000432053.1:p.Leu305ProfsTer?
ENST00000530076.5:c.255_256dup	ENSP00000434007.1:p.Leu86ProfsTer?
ENST00000530704.5:c.*535_*536dup	ENSP00000431655.1:n.*535_*536dup
NM_000310.3:c.912_913dup , LRG_690t1:c.912_913dup	NP_000301.1:p.Leu305ProfsTer?
NM_001142604.1:c.603_604dup	NP_001136076.1:p.Leu202ProfsTer?
XM_005271008.1:c.840_841dup	XP_005271065.1:p.Leu281ProfsTer?
NM_001363695.1:c.840_841dup	NP_001350624.1:p.Leu281ProfsTer?
NM_000310.4:c.912_913dup MANE Select	NP_000301.1:p.Leu305ProfsTer?
NM_001142604.2:c.603_604dup	NP_001136076.1:p.Leu202ProfsTer?
NM_001363695.2:c.840_841dup	NP_001350624.1:p.Leu281ProfsTer?