Canonical Allele Identifier: CA339847612

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546085T>A (hg19) ; chr1:g.40080413T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080413T>A , CM000663.2:g.40080413T>A	GRCh38
NC_000001.10:g.40546085T>A , CM000663.1:g.40546085T>A	GRCh37
NC_000001.9:g.40318672T>A	NCBI36
NG_009192.1:g.22058A>T , LRG_690:g.22058A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.608A>T	ENSP00000394863.4:p.Asp203Val
ENST00000439754.6:c.611A>T	ENSP00000403207.2:p.Asp204Val
ENST00000449045.7:c.302A>T	ENSP00000392293.2:p.Asp101Val
ENST00000527311.7:c.380A>T	ENSP00000436695.3:p.Asp127Val
ENST00000530076.6:c.-47A>T	ENSP00000434007.1:n.-47A>T
ENST00000530704.6:c.*234A>T	ENSP00000431655.1:n.*234A>T
ENST00000641083.1:c.589A>T
ENST00000641236.1:n.848A>T
ENST00000641319.1:c.611A>T	ENSP00000493128.1:p.Asp204Val
ENST00000641381.1:c.149-3500A>T
ENST00000641471.1:c.698A>T	ENSP00000493146.1:p.Asp233Val
ENST00000641691.1:c.*463A>T	ENSP00000492910.1:n.*463A>T
ENST00000641924.1:c.*40A>T	ENSP00000493063.1:n.*40A>T
ENST00000642050.2:c.611A>T MANE Select	ENSP00000493153.1:p.Asp204Val
ENST00000372779.8:c.698A>T	ENSP00000361865.4:p.Asp233Val
ENST00000433473.7:c.611A>T	ENSP00000394863.3:p.Asp204Val
ENST00000439754.5:c.296A>T	ENSP00000403207.1:p.Asp99Val
ENST00000449045.6:c.302A>T	ENSP00000392293.2:p.Asp101Val
ENST00000527311.6:c.386A>T	ENSP00000436695.2:p.Asp129Val
ENST00000529905.5:c.611A>T	ENSP00000432053.1:p.Asp204Val
ENST00000530076.5:c.-47A>T	ENSP00000434007.1:n.-47A>T
ENST00000530704.5:c.*234A>T	ENSP00000431655.1:n.*234A>T
NM_000310.3:c.611A>T , LRG_690t1:c.611A>T	NP_000301.1:p.Asp204Val
NM_001142604.1:c.302A>T	NP_001136076.1:p.Asp101Val
XM_005271008.1:c.611A>T	XP_005271065.1:p.Asp204Val
NM_001363695.1:c.611A>T	NP_001350624.1:p.Asp204Val
NM_000310.4:c.611A>T MANE Select	NP_000301.1:p.Asp204Val
NM_001142604.2:c.302A>T	NP_001136076.1:p.Asp101Val
NM_001363695.2:c.611A>T	NP_001350624.1:p.Asp204Val