Canonical Allele Identifier: CA339846662

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544259A>T (hg19) ; chr1:g.40078587A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078587A>T , CM000663.2:g.40078587A>T	GRCh38
NC_000001.10:g.40544259A>T , CM000663.1:g.40544259A>T	GRCh37
NC_000001.9:g.40316846A>T	NCBI36
NG_009192.1:g.23884T>A , LRG_690:g.23884T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.696T>A	ENSP00000394863.4:p.Asp232Glu
ENST00000439754.6:c.699T>A	ENSP00000403207.2:p.Asp233Glu
ENST00000449045.7:c.390T>A	ENSP00000392293.2:p.Asp130Glu
ENST00000527311.7:c.468T>A	ENSP00000436695.3:p.Asp156Glu
ENST00000530076.6:c.42T>A	ENSP00000434007.1:p.Asp14Glu
ENST00000530704.6:c.*322T>A	ENSP00000431655.1:n.*322T>A
ENST00000641083.1:c.677T>A
ENST00000641236.1:n.936T>A
ENST00000641319.1:c.699T>A	ENSP00000493128.1:p.Asp233Glu
ENST00000641381.1:c.149-1674T>A
ENST00000641471.1:c.786T>A	ENSP00000493146.1:p.Asp262Glu
ENST00000641691.1:c.*551T>A	ENSP00000492910.1:n.*551T>A
ENST00000641924.1:c.*128T>A	ENSP00000493063.1:n.*128T>A
ENST00000642050.2:c.699T>A MANE Select	ENSP00000493153.1:p.Asp233Glu
ENST00000372775.2:n.96T>A
ENST00000372779.8:c.786T>A	ENSP00000361865.4:p.Asp262Glu
ENST00000433473.7:c.699T>A	ENSP00000394863.3:p.Asp233Glu
ENST00000439754.5:c.384T>A	ENSP00000403207.1:p.Asp128Glu
ENST00000449045.6:c.390T>A	ENSP00000392293.2:p.Asp130Glu
ENST00000527311.6:c.474T>A	ENSP00000436695.2:p.Asp158Glu
ENST00000529905.5:c.699T>A	ENSP00000432053.1:p.Asp233Glu
ENST00000530076.5:c.42T>A	ENSP00000434007.1:p.Asp14Glu
ENST00000530704.5:c.*322T>A	ENSP00000431655.1:n.*322T>A
NM_000310.3:c.699T>A , LRG_690t1:c.699T>A	NP_000301.1:p.Asp233Glu
NM_001142604.1:c.390T>A	NP_001136076.1:p.Asp130Glu
XM_005271008.1:c.699T>A	XP_005271065.1:p.Asp233Glu
NM_001363695.1:c.699T>A	NP_001350624.1:p.Asp233Glu
NM_000310.4:c.699T>A MANE Select	NP_000301.1:p.Asp233Glu
NM_001142604.2:c.390T>A	NP_001136076.1:p.Asp130Glu
NM_001363695.2:c.699T>A	NP_001350624.1:p.Asp233Glu