Canonical Allele Identifier: CA1142238902

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080483C= , CM000663.2:g.40080483C=	GRCh38
NC_000001.10:g.40546155C= , CM000663.1:g.40546155C=	GRCh37
NC_000001.9:g.40318742C=	NCBI36
NG_009192.1:g.21988G= , LRG_690:g.21988G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*377G=	ENSP00000361865.5:n.*377G=
ENST00000433473.8:c.538G=	ENSP00000394863.4:p.Val180=
ENST00000439754.6:c.541G=	ENSP00000403207.2:p.Val181=
ENST00000449045.7:c.232G=	ENSP00000392293.2:p.Val78=
ENST00000527311.7:c.310G=	ENSP00000436695.3:p.Val104=
ENST00000530076.6:c.-117G=	ENSP00000434007.1:n.-117G=
ENST00000530704.6:c.*164G=	ENSP00000431655.1:n.*164G=
ENST00000641083.1:c.519G=
ENST00000641236.1:n.778G=
ENST00000641319.1:c.541G=	ENSP00000493128.1:p.Val181=
ENST00000641381.1:c.149-3570G=
ENST00000641471.1:c.628G=	ENSP00000493146.1:p.Val210=
ENST00000641691.1:c.*393G=	ENSP00000492910.1:n.*393G=
ENST00000641924.1:c.129G=	ENSP00000493063.1:p.Ser43=
ENST00000642050.2:c.541G= MANE Select	ENSP00000493153.1:p.Val181=
ENST00000372779.8:c.628G=	ENSP00000361865.4:p.Val210=
ENST00000433473.7:c.541G=	ENSP00000394863.3:p.Val181=
ENST00000439754.5:c.226G=	ENSP00000403207.1:p.Val76=
ENST00000449045.6:c.232G=	ENSP00000392293.2:p.Val78=
ENST00000527311.6:c.316G=	ENSP00000436695.2:p.Val106=
ENST00000529905.5:c.541G=	ENSP00000432053.1:p.Val181=
ENST00000530076.5:c.-117G=	ENSP00000434007.1:n.-117G=
ENST00000530704.5:c.*164G=	ENSP00000431655.1:n.*164G=
NM_000310.3:c.541G= , LRG_690t1:c.541G=	NP_000301.1:p.Val181=
NM_001142604.1:c.232G=	NP_001136076.1:p.Val78=
XM_005271008.1:c.541G=	XP_005271065.1:p.Val181=
NM_001363695.1:c.541G=	NP_001350624.1:p.Val181=
NM_000310.4:c.541G= MANE Select	NP_000301.1:p.Val181=
NM_001142604.2:c.232G=	NP_001136076.1:p.Val78=
NM_001363695.2:c.541G=	NP_001350624.1:p.Val181=