Canonical Allele Identifier: CA339846544

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544232C>A (hg19) ; chr1:g.40078560C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078560C>A , CM000663.2:g.40078560C>A	GRCh38
NC_000001.10:g.40544232C>A , CM000663.1:g.40544232C>A	GRCh37
NC_000001.9:g.40316819C>A	NCBI36
NG_009192.1:g.23911G>T , LRG_690:g.23911G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.723G>T	ENSP00000394863.4:p.Glu241Asp
ENST00000439754.6:c.726G>T	ENSP00000403207.2:p.Glu242Asp
ENST00000449045.7:c.417G>T	ENSP00000392293.2:p.Glu139Asp
ENST00000527311.7:c.495G>T	ENSP00000436695.3:p.Glu165Asp
ENST00000530076.6:c.69G>T	ENSP00000434007.1:p.Glu23Asp
ENST00000530704.6:c.*349G>T	ENSP00000431655.1:n.*349G>T
ENST00000641083.1:c.704G>T
ENST00000641236.1:n.963G>T
ENST00000641319.1:c.726G>T	ENSP00000493128.1:p.Glu242Asp
ENST00000641381.1:c.149-1647G>T
ENST00000641471.1:c.813G>T	ENSP00000493146.1:p.Glu271Asp
ENST00000641691.1:c.*578G>T	ENSP00000492910.1:n.*578G>T
ENST00000641924.1:c.*155G>T	ENSP00000493063.1:n.*155G>T
ENST00000642050.2:c.726G>T MANE Select	ENSP00000493153.1:p.Glu242Asp
ENST00000372775.2:n.123G>T
ENST00000372779.8:c.813G>T	ENSP00000361865.4:p.Glu271Asp
ENST00000433473.7:c.726G>T	ENSP00000394863.3:p.Glu242Asp
ENST00000439754.5:c.411G>T	ENSP00000403207.1:p.Glu137Asp
ENST00000449045.6:c.417G>T	ENSP00000392293.2:p.Glu139Asp
ENST00000527311.6:c.501G>T	ENSP00000436695.2:p.Glu167Asp
ENST00000529905.5:c.726G>T	ENSP00000432053.1:p.Glu242Asp
ENST00000530076.5:c.69G>T	ENSP00000434007.1:p.Glu23Asp
ENST00000530704.5:c.*349G>T	ENSP00000431655.1:n.*349G>T
NM_000310.3:c.726G>T , LRG_690t1:c.726G>T	NP_000301.1:p.Glu242Asp
NM_001142604.1:c.417G>T	NP_001136076.1:p.Glu139Asp
XM_005271008.1:c.726G>T	XP_005271065.1:p.Glu242Asp
NM_001363695.1:c.726G>T	NP_001350624.1:p.Glu242Asp
NM_000310.4:c.726G>T MANE Select	NP_000301.1:p.Glu242Asp
NM_001142604.2:c.417G>T	NP_001136076.1:p.Glu139Asp
NM_001363695.2:c.726G>T	NP_001350624.1:p.Glu242Asp