Canonical Allele Identifier: CA2743276164

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074373T>A , CM000663.2:g.40074373T>A	GRCh38
NC_000001.10:g.40540045T>A , CM000663.1:g.40540045T>A	GRCh37
NC_000001.9:g.40312632T>A	NCBI36
NG_009192.1:g.28098A>T , LRG_690:g.28098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-190A>T	ENSP00000394863.4:n.796-190A>T
ENST00000439754.6:c.727-190A>T	ENSP00000403207.2:n.727-190A>T
ENST00000449045.7:c.490-190A>T	ENSP00000392293.2:n.490-190A>T
ENST00000527311.7:c.568-190A>T	ENSP00000436695.3:n.568-190A>T
ENST00000530076.6:c.142-190A>T	ENSP00000434007.1:n.142-190A>T
ENST00000530704.6:c.*422-190A>T	ENSP00000431655.1:n.*422-190A>T
ENST00000641083.1:c.889-190A>T
ENST00000641236.1:n.1036-190A>T
ENST00000641319.1:c.*9-190A>T	ENSP00000493128.1:n.*9-190A>T
ENST00000641381.1:c.221-190A>T
ENST00000641471.1:c.886-190A>T	ENSP00000493146.1:n.886-190A>T
ENST00000641691.1:c.*651-190A>T	ENSP00000492910.1:n.*651-190A>T
ENST00000641924.1:c.*228-190A>T	ENSP00000493063.1:n.*228-190A>T
ENST00000642050.2:c.799-190A>T MANE Select	ENSP00000493153.1:n.799-190A>T
ENST00000372775.2:n.196-190A>T
ENST00000433473.7:c.799-190A>T	ENSP00000394863.3:n.799-190A>T
ENST00000439754.5:c.412-190A>T	ENSP00000403207.1:n.412-190A>T
ENST00000449045.6:c.490-190A>T	ENSP00000392293.2:n.490-190A>T
ENST00000527311.6:c.574-190A>T	ENSP00000436695.2:n.574-190A>T
ENST00000529905.5:c.799-190A>T	ENSP00000432053.1:n.799-190A>T
ENST00000530076.5:c.142-190A>T	ENSP00000434007.1:n.142-190A>T
ENST00000530704.5:c.*422-190A>T	ENSP00000431655.1:n.*422-190A>T
NM_000310.3:c.799-190A>T , LRG_690t1:c.799-190A>T	NP_000301.1:n.799-190A>T
NM_001142604.1:c.490-190A>T	NP_001136076.1:n.490-190A>T
XM_005271008.1:c.727-190A>T	XP_005271065.1:n.727-190A>T
NM_001363695.1:c.727-190A>T	NP_001350624.1:n.727-190A>T
NM_000310.4:c.799-190A>T MANE Select	NP_000301.1:n.799-190A>T
NM_001142604.2:c.490-190A>T	NP_001136076.1:n.490-190A>T
NM_001363695.2:c.727-190A>T	NP_001350624.1:n.727-190A>T