Canonical Allele Identifier: CA339845666

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074147G>A , CM000663.2:g.40074147G>A	GRCh38
NC_000001.10:g.40539819G>A , CM000663.1:g.40539819G>A	GRCh37
NC_000001.9:g.40312406G>A	NCBI36
NG_009192.1:g.28324C>T , LRG_690:g.28324C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.835C>T MANE Select	NP_000301.1:p.Gln279Ter
ENST00000642050.2:c.835C>T MANE Select	ENSP00000493153.1:p.Gln279Ter
NM_000310.3:c.835C>T , LRG_690t1:c.835C>T	NP_000301.1:p.Gln279Ter
NM_001142604.1:c.526C>T	NP_001136076.1:p.Gln176Ter
NM_001142604.2:c.526C>T	NP_001136076.1:p.Gln176Ter
NM_001363695.1:c.763C>T	NP_001350624.1:p.Gln255Ter
NM_001363695.2:c.763C>T	NP_001350624.1:p.Gln255Ter
ENST00000372775.2:n.232C>T
ENST00000433473.7:c.835C>T	ENSP00000394863.3:p.Gln279Ter
ENST00000433473.8:c.832C>T	ENSP00000394863.4:p.Gln278Ter
ENST00000439754.5:c.448C>T	ENSP00000403207.1:p.Gln150Ter
ENST00000439754.6:c.763C>T	ENSP00000403207.2:p.Gln255Ter
ENST00000449045.6:c.526C>T	ENSP00000392293.2:p.Gln176Ter
ENST00000449045.7:c.526C>T	ENSP00000392293.2:p.Gln176Ter
ENST00000527311.6:c.610C>T	ENSP00000436695.2:p.Gln204Ter
ENST00000527311.7:c.604C>T	ENSP00000436695.3:p.Gln202Ter
ENST00000529905.5:c.835C>T	ENSP00000432053.1:p.Gln279Ter
ENST00000530076.5:c.178C>T	ENSP00000434007.1:p.Gln60Ter
ENST00000530076.6:c.178C>T	ENSP00000434007.1:p.Gln60Ter
ENST00000530704.5:c.*458C>T	ENSP00000431655.1:n.*458C>T
ENST00000530704.6:c.*458C>T	ENSP00000431655.1:n.*458C>T
ENST00000641083.1:c.925C>T
ENST00000641236.1:n.1072C>T
ENST00000641319.1:c.*45C>T	ENSP00000493128.1:n.*45C>T
ENST00000641381.1:c.257C>T
ENST00000641471.1:c.922C>T	ENSP00000493146.1:p.Gln308Ter
ENST00000641691.1:c.*687C>T	ENSP00000492910.1:n.*687C>T
ENST00000641924.1:c.*264C>T	ENSP00000493063.1:n.*264C>T
XM_005271008.1:c.763C>T	XP_005271065.1:p.Gln255Ter