Canonical Allele Identifier: CA339845599

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539803G>T (hg19) ; chr1:g.40074131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074131G>T , CM000663.2:g.40074131G>T	GRCh38
NC_000001.10:g.40539803G>T , CM000663.1:g.40539803G>T	GRCh37
NC_000001.9:g.40312390G>T	NCBI36
NG_009192.1:g.28340C>A , LRG_690:g.28340C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.848C>A	ENSP00000394863.4:p.Ala283Asp
ENST00000439754.6:c.779C>A	ENSP00000403207.2:p.Ala260Asp
ENST00000449045.7:c.542C>A	ENSP00000392293.2:p.Ala181Asp
ENST00000527311.7:c.620C>A	ENSP00000436695.3:p.Ala207Asp
ENST00000530076.6:c.194C>A	ENSP00000434007.1:p.Ala65Asp
ENST00000530704.6:c.*474C>A	ENSP00000431655.1:n.*474C>A
ENST00000641083.1:c.941C>A
ENST00000641236.1:n.1088C>A
ENST00000641319.1:c.*61C>A	ENSP00000493128.1:n.*61C>A
ENST00000641381.1:c.273C>A
ENST00000641471.1:c.938C>A	ENSP00000493146.1:p.Ala313Asp
ENST00000641691.1:c.*703C>A	ENSP00000492910.1:n.*703C>A
ENST00000641924.1:c.*280C>A	ENSP00000493063.1:n.*280C>A
ENST00000642050.2:c.851C>A MANE Select	ENSP00000493153.1:p.Ala284Asp
ENST00000372775.2:n.248C>A
ENST00000433473.7:c.851C>A	ENSP00000394863.3:p.Ala284Asp
ENST00000439754.5:c.464C>A	ENSP00000403207.1:p.Ala155Asp
ENST00000449045.6:c.542C>A	ENSP00000392293.2:p.Ala181Asp
ENST00000529905.5:c.851C>A	ENSP00000432053.1:p.Ala284Asp
ENST00000530076.5:c.194C>A	ENSP00000434007.1:p.Ala65Asp
ENST00000530704.5:c.*474C>A	ENSP00000431655.1:n.*474C>A
NM_000310.3:c.851C>A , LRG_690t1:c.851C>A	NP_000301.1:p.Ala284Asp
NM_001142604.1:c.542C>A	NP_001136076.1:p.Ala181Asp
XM_005271008.1:c.779C>A	XP_005271065.1:p.Ala260Asp
NM_001363695.1:c.779C>A	NP_001350624.1:p.Ala260Asp
NM_000310.4:c.851C>A MANE Select	NP_000301.1:p.Ala284Asp
NM_001142604.2:c.542C>A	NP_001136076.1:p.Ala181Asp
NM_001363695.2:c.779C>A	NP_001350624.1:p.Ala260Asp