Canonical Allele Identifier: CA417322211

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078596G>A , CM000663.2:g.40078596G>A	GRCh38
NC_000001.10:g.40544268G>A , CM000663.1:g.40544268G>A	GRCh37
NC_000001.9:g.40316855G>A	NCBI36
NG_009192.1:g.23875C>T , LRG_690:g.23875C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.690C>T MANE Select	NP_000301.1:p.Phe230=
ENST00000642050.2:c.690C>T MANE Select	ENSP00000493153.1:p.Phe230=
NM_000310.3:c.690C>T , LRG_690t1:c.690C>T	NP_000301.1:p.Phe230=
NM_001142604.1:c.381C>T	NP_001136076.1:p.Phe127=
NM_001142604.2:c.381C>T	NP_001136076.1:p.Phe127=
NM_001363695.1:c.690C>T	NP_001350624.1:p.Phe230=
NM_001363695.2:c.690C>T	NP_001350624.1:p.Phe230=
ENST00000372775.2:n.87C>T
ENST00000372779.8:c.777C>T	ENSP00000361865.4:p.Phe259=
ENST00000433473.7:c.690C>T	ENSP00000394863.3:p.Phe230=
ENST00000433473.8:c.687C>T	ENSP00000394863.4:p.Phe229=
ENST00000439754.5:c.375C>T	ENSP00000403207.1:p.Phe125=
ENST00000439754.6:c.690C>T	ENSP00000403207.2:p.Phe230=
ENST00000449045.6:c.381C>T	ENSP00000392293.2:p.Phe127=
ENST00000449045.7:c.381C>T	ENSP00000392293.2:p.Phe127=
ENST00000527311.6:c.465C>T	ENSP00000436695.2:p.Phe155=
ENST00000527311.7:c.459C>T	ENSP00000436695.3:p.Phe153=
ENST00000529905.5:c.690C>T	ENSP00000432053.1:p.Phe230=
ENST00000530076.5:c.33C>T	ENSP00000434007.1:p.Phe11=
ENST00000530076.6:c.33C>T	ENSP00000434007.1:p.Phe11=
ENST00000530704.5:c.*313C>T	ENSP00000431655.1:n.*313C>T
ENST00000530704.6:c.*313C>T	ENSP00000431655.1:n.*313C>T
ENST00000641083.1:c.668C>T
ENST00000641236.1:n.927C>T
ENST00000641319.1:c.690C>T	ENSP00000493128.1:p.Phe230=
ENST00000641381.1:c.149-1683C>T
ENST00000641471.1:c.777C>T	ENSP00000493146.1:p.Phe259=
ENST00000641691.1:c.*542C>T	ENSP00000492910.1:n.*542C>T
ENST00000641924.1:c.*119C>T	ENSP00000493063.1:n.*119C>T
XM_005271008.1:c.690C>T	XP_005271065.1:p.Phe230=