Canonical Allele Identifier: CA339845440

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539770T>A (hg19) ; chr1:g.40074098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074098T>A , CM000663.2:g.40074098T>A	GRCh38
NC_000001.10:g.40539770T>A , CM000663.1:g.40539770T>A	GRCh37
NC_000001.9:g.40312357T>A	NCBI36
NG_009192.1:g.28373A>T , LRG_690:g.28373A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.881A>T	ENSP00000394863.4:p.Glu294Val
ENST00000439754.6:c.812A>T	ENSP00000403207.2:p.Glu271Val
ENST00000449045.7:c.575A>T	ENSP00000392293.2:p.Glu192Val
ENST00000530076.6:c.227A>T	ENSP00000434007.1:p.Glu76Val
ENST00000530704.6:c.*507A>T	ENSP00000431655.1:n.*507A>T
ENST00000641083.1:c.974A>T
ENST00000641236.1:n.1121A>T
ENST00000641319.1:c.*94A>T	ENSP00000493128.1:n.*94A>T
ENST00000641381.1:c.306A>T
ENST00000641471.1:c.971A>T	ENSP00000493146.1:p.Glu324Val
ENST00000641691.1:c.*736A>T	ENSP00000492910.1:n.*736A>T
ENST00000641924.1:c.*313A>T	ENSP00000493063.1:n.*313A>T
ENST00000642050.2:c.884A>T MANE Select	ENSP00000493153.1:p.Glu295Val
ENST00000372775.2:n.281A>T
ENST00000433473.7:c.884A>T	ENSP00000394863.3:p.Glu295Val
ENST00000439754.5:c.497A>T	ENSP00000403207.1:p.Glu166Val
ENST00000449045.6:c.575A>T	ENSP00000392293.2:p.Glu192Val
ENST00000529905.5:c.884A>T	ENSP00000432053.1:p.Glu295Val
ENST00000530076.5:c.227A>T	ENSP00000434007.1:p.Glu76Val
ENST00000530704.5:c.*507A>T	ENSP00000431655.1:n.*507A>T
NM_000310.3:c.884A>T , LRG_690t1:c.884A>T	NP_000301.1:p.Glu295Val
NM_001142604.1:c.575A>T	NP_001136076.1:p.Glu192Val
XM_005271008.1:c.812A>T	XP_005271065.1:p.Glu271Val
NM_001363695.1:c.812A>T	NP_001350624.1:p.Glu271Val
NM_000310.4:c.884A>T MANE Select	NP_000301.1:p.Glu295Val
NM_001142604.2:c.575A>T	NP_001136076.1:p.Glu192Val
NM_001363695.2:c.812A>T	NP_001350624.1:p.Glu271Val