Canonical Allele Identifier: CA417322672

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089490G>A , CM000663.2:g.40089490G>A	GRCh38
NC_000001.10:g.40555162G>A , CM000663.1:g.40555162G>A	GRCh37
NC_000001.9:g.40327749G>A	NCBI36
NG_009192.1:g.12981C>T , LRG_690:g.12981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*292C>T	ENSP00000361865.5:n.*292C>T
ENST00000433473.8:c.453C>T	ENSP00000394863.4:p.Cys151=
ENST00000439754.6:c.456C>T	ENSP00000403207.2:p.Cys152=
ENST00000449045.7:c.147C>T	ENSP00000392293.2:p.Cys49=
ENST00000527311.7:c.305+1839C>T	ENSP00000436695.3:n.305+1839C>T
ENST00000530704.6:c.*79C>T	ENSP00000431655.1:n.*79C>T
ENST00000641083.1:c.434C>T
ENST00000641236.1:n.693C>T
ENST00000641319.1:c.456C>T	ENSP00000493128.1:p.Cys152=
ENST00000641381.1:c.68C>T
ENST00000641471.1:c.543C>T	ENSP00000493146.1:p.Cys181=
ENST00000641691.1:c.*308C>T	ENSP00000492910.1:n.*308C>T
ENST00000641924.1:c.124+7625C>T	ENSP00000493063.1:n.124+7625C>T
ENST00000642050.2:c.456C>T MANE Select	ENSP00000493153.1:p.Cys152=
ENST00000372779.8:c.543C>T	ENSP00000361865.4:p.Cys181=
ENST00000433473.7:c.456C>T	ENSP00000394863.3:p.Cys152=
ENST00000439754.5:c.141C>T	ENSP00000403207.1:p.Cys47=
ENST00000449045.6:c.147C>T	ENSP00000392293.2:p.Cys49=
ENST00000527311.6:c.231C>T	ENSP00000436695.2:p.Cys77=
ENST00000529905.5:c.456C>T	ENSP00000432053.1:p.Cys152=
ENST00000530704.5:c.*79C>T	ENSP00000431655.1:n.*79C>T
NM_000310.3:c.456C>T , LRG_690t1:c.456C>T	NP_000301.1:p.Cys152=
NM_001142604.1:c.147C>T	NP_001136076.1:p.Cys49=
XM_005271008.1:c.456C>T	XP_005271065.1:p.Cys152=
NM_001363695.1:c.456C>T	NP_001350624.1:p.Cys152=
NM_000310.4:c.456C>T MANE Select	NP_000301.1:p.Cys152=
NM_001142604.2:c.147C>T	NP_001136076.1:p.Cys49=
NM_001363695.2:c.456C>T	NP_001350624.1:p.Cys152=