Canonical Allele Identifier: CA2842171796

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074033dup , CM000663.2:g.40074033dup	GRCh38
NC_000001.10:g.40539705dup , CM000663.1:g.40539705dup	GRCh37
NC_000001.9:g.40312292dup	NCBI36
NG_009192.1:g.28440dup , LRG_690:g.28440dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*30dup	ENSP00000394863.4:n.*30dup
ENST00000439754.6:c.*30dup	ENSP00000403207.2:n.*30dup
ENST00000449045.7:c.*30dup	ENSP00000392293.2:n.*30dup
ENST00000530076.6:c.*30dup	ENSP00000434007.1:n.*30dup
ENST00000530704.6:c.*574dup	ENSP00000431655.1:n.*574dup
ENST00000641083.1:c.1041dup
ENST00000641236.1:n.1188dup
ENST00000641319.1:c.*161dup	ENSP00000493128.1:n.*161dup
ENST00000641381.1:c.373dup
ENST00000641471.1:c.*30dup	ENSP00000493146.1:n.*30dup
ENST00000641691.1:c.*803dup	ENSP00000492910.1:n.*803dup
ENST00000641924.1:c.*380dup	ENSP00000493063.1:n.*380dup
ENST00000642050.2:c.*30dup MANE Select	ENSP00000493153.1:n.*30dup
ENST00000372775.2:n.348dup
ENST00000433473.7:c.*30dup	ENSP00000394863.3:n.*30dup
ENST00000439754.5:c.564dup	ENSP00000403207.1:n.564dup
ENST00000449045.6:c.*30dup	ENSP00000392293.2:n.*30dup
ENST00000529905.5:c.*30dup	ENSP00000432053.1:n.*30dup
ENST00000530704.5:c.*574dup	ENSP00000431655.1:n.*574dup
NM_000310.3:c.*30dup , LRG_690t1:c.*30dup	NP_000301.1:n.*30dup
NM_001142604.1:c.*30dup	NP_001136076.1:n.*30dup
XM_005271008.1:c.*30dup	XP_005271065.1:n.*30dup
NM_001363695.1:c.*30dup	NP_001350624.1:n.*30dup
NM_000310.4:c.*30dup MANE Select	NP_000301.1:n.*30dup
NM_001142604.2:c.*30dup	NP_001136076.1:n.*30dup
NM_001363695.2:c.*30dup	NP_001350624.1:n.*30dup