Canonical Allele Identifier: CA339846400

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076865G>A , CM000663.2:g.40076865G>A	GRCh38
NC_000001.10:g.40542537G>A , CM000663.1:g.40542537G>A	GRCh37
NC_000001.9:g.40315124G>A	NCBI36
NG_009192.1:g.25606C>T , LRG_690:g.25606C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.775C>T MANE Select	NP_000301.1:p.Gln259Ter
ENST00000642050.2:c.775C>T MANE Select	ENSP00000493153.1:p.Gln259Ter
NM_000310.3:c.775C>T , LRG_690t1:c.775C>T	NP_000301.1:p.Gln259Ter
NM_001142604.1:c.466C>T	NP_001136076.1:p.Gln156Ter
NM_001142604.2:c.466C>T	NP_001136076.1:p.Gln156Ter
NM_001363695.1:c.726+1695C>T	NP_001350624.1:n.726+1695C>T
NM_001363695.2:c.726+1695C>T	NP_001350624.1:n.726+1695C>T
ENST00000372775.2:n.172C>T
ENST00000433473.7:c.775C>T	ENSP00000394863.3:p.Gln259Ter
ENST00000433473.8:c.772C>T	ENSP00000394863.4:p.Gln258Ter
ENST00000439754.5:c.411+1695C>T	ENSP00000403207.1:n.411+1695C>T
ENST00000439754.6:c.726+1695C>T	ENSP00000403207.2:n.726+1695C>T
ENST00000449045.6:c.466C>T	ENSP00000392293.2:p.Gln156Ter
ENST00000449045.7:c.466C>T	ENSP00000392293.2:p.Gln156Ter
ENST00000527311.6:c.550C>T	ENSP00000436695.2:p.Gln184Ter
ENST00000527311.7:c.544C>T	ENSP00000436695.3:p.Gln182Ter
ENST00000529905.5:c.775C>T	ENSP00000432053.1:p.Gln259Ter
ENST00000530076.5:c.118C>T	ENSP00000434007.1:p.Gln40Ter
ENST00000530076.6:c.118C>T	ENSP00000434007.1:p.Gln40Ter
ENST00000530704.5:c.*398C>T	ENSP00000431655.1:n.*398C>T
ENST00000530704.6:c.*398C>T	ENSP00000431655.1:n.*398C>T
ENST00000641083.1:c.753C>T
ENST00000641236.1:n.1012C>T
ENST00000641319.1:c.775C>T	ENSP00000493128.1:p.Gln259Ter
ENST00000641381.1:c.197C>T
ENST00000641471.1:c.862C>T	ENSP00000493146.1:p.Gln288Ter
ENST00000641691.1:c.*627C>T	ENSP00000492910.1:n.*627C>T
ENST00000641924.1:c.*204C>T	ENSP00000493063.1:n.*204C>T
XM_005271008.1:c.726+1695C>T	XP_005271065.1:n.726+1695C>T