Canonical Allele Identifier: CA417322676

Gene: PPT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089495G>T , CM000663.2:g.40089495G>T	GRCh38
NC_000001.10:g.40555167G>T , CM000663.1:g.40555167G>T	GRCh37
NC_000001.9:g.40327754G>T	NCBI36
NG_009192.1:g.12976C>A , LRG_690:g.12976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*287C>A	ENSP00000361865.5:n.*287C>A
ENST00000433473.8:c.448C>A	ENSP00000394863.4:p.Arg150=
ENST00000439754.6:c.451C>A	ENSP00000403207.2:p.Arg151=
ENST00000449045.7:c.142C>A	ENSP00000392293.2:p.Arg48=
ENST00000526547.2:c.731C>A
ENST00000527311.7:c.305+1834C>A	ENSP00000436695.3:n.305+1834C>A
ENST00000530704.6:c.*74C>A	ENSP00000431655.1:n.*74C>A
ENST00000641083.1:c.429C>A
ENST00000641236.1:n.688C>A
ENST00000641319.1:c.451C>A	ENSP00000493128.1:p.Arg151=
ENST00000641381.1:c.63C>A
ENST00000641471.1:c.538C>A	ENSP00000493146.1:p.Arg180=
ENST00000641691.1:c.*303C>A	ENSP00000492910.1:n.*303C>A
ENST00000641924.1:c.124+7620C>A	ENSP00000493063.1:n.124+7620C>A
ENST00000642050.2:c.451C>A MANE Select	ENSP00000493153.1:p.Arg151=
ENST00000372779.8:c.538C>A	ENSP00000361865.4:p.Arg180=
ENST00000433473.7:c.451C>A	ENSP00000394863.3:p.Arg151=
ENST00000439754.5:c.136C>A	ENSP00000403207.1:p.Arg46=
ENST00000449045.6:c.142C>A	ENSP00000392293.2:p.Arg48=
ENST00000527311.6:c.226C>A	ENSP00000436695.2:p.Arg76=
ENST00000529905.5:c.451C>A	ENSP00000432053.1:p.Arg151=
ENST00000530704.5:c.*74C>A	ENSP00000431655.1:n.*74C>A
NM_000310.3:c.451C>A , LRG_690t1:c.451C>A	NP_000301.1:p.Arg151=
NM_001142604.1:c.142C>A	NP_001136076.1:p.Arg48=
XM_005271008.1:c.451C>A	XP_005271065.1:p.Arg151=
NM_001363695.1:c.451C>A	NP_001350624.1:p.Arg151=
NM_000310.4:c.451C>A MANE Select	NP_000301.1:p.Arg151=
NM_001142604.2:c.142C>A	NP_001136076.1:p.Arg48=
NM_001363695.2:c.451C>A	NP_001350624.1:p.Arg151=