Canonical Allele Identifier: CA417322015

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539817C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074145C>T , CM000663.2:g.40074145C>T	GRCh38
NC_000001.10:g.40539817C>T , CM000663.1:g.40539817C>T	GRCh37
NC_000001.9:g.40312404C>T	NCBI36
NG_009192.1:g.28326G>A , LRG_690:g.28326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.834G>A	ENSP00000394863.4:p.Gln278=
ENST00000439754.6:c.765G>A	ENSP00000403207.2:p.Gln255=
ENST00000449045.7:c.528G>A	ENSP00000392293.2:p.Gln176=
ENST00000527311.7:c.606G>A	ENSP00000436695.3:p.Gln202=
ENST00000530076.6:c.180G>A	ENSP00000434007.1:p.Gln60=
ENST00000530704.6:c.*460G>A	ENSP00000431655.1:n.*460G>A
ENST00000641083.1:c.927G>A
ENST00000641236.1:n.1074G>A
ENST00000641319.1:c.*47G>A	ENSP00000493128.1:n.*47G>A
ENST00000641381.1:c.259G>A
ENST00000641471.1:c.924G>A	ENSP00000493146.1:p.Gln308=
ENST00000641691.1:c.*689G>A	ENSP00000492910.1:n.*689G>A
ENST00000641924.1:c.*266G>A	ENSP00000493063.1:n.*266G>A
ENST00000642050.2:c.837G>A MANE Select	ENSP00000493153.1:p.Gln279=
ENST00000372775.2:n.234G>A
ENST00000433473.7:c.837G>A	ENSP00000394863.3:p.Gln279=
ENST00000439754.5:c.450G>A	ENSP00000403207.1:p.Gln150=
ENST00000449045.6:c.528G>A	ENSP00000392293.2:p.Gln176=
ENST00000527311.6:c.612G>A	ENSP00000436695.2:p.Gln204=
ENST00000529905.5:c.837G>A	ENSP00000432053.1:p.Gln279=
ENST00000530076.5:c.180G>A	ENSP00000434007.1:p.Gln60=
ENST00000530704.5:c.*460G>A	ENSP00000431655.1:n.*460G>A
NM_000310.3:c.837G>A , LRG_690t1:c.837G>A	NP_000301.1:p.Gln279=
NM_001142604.1:c.528G>A	NP_001136076.1:p.Gln176=
XM_005271008.1:c.765G>A	XP_005271065.1:p.Gln255=
NM_001363695.1:c.765G>A	NP_001350624.1:p.Gln255=
NM_000310.4:c.837G>A MANE Select	NP_000301.1:p.Gln279=
NM_001142604.2:c.528G>A	NP_001136076.1:p.Gln176=
NM_001363695.2:c.765G>A	NP_001350624.1:p.Gln255=