Canonical Allele Identifier: CA339845595

Gene: PPT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.848C>T	ENSP00000394863.4:p.Ala283Val
ENST00000439754.6:c.779C>T	ENSP00000403207.2:p.Ala260Val
ENST00000449045.7:c.542C>T	ENSP00000392293.2:p.Ala181Val
ENST00000527311.7:c.620C>T	ENSP00000436695.3:p.Ala207Val
ENST00000530076.6:c.194C>T	ENSP00000434007.1:p.Ala65Val
ENST00000530704.6:c.*474C>T	ENSP00000431655.1:n.*474C>T
ENST00000641083.1:c.941C>T
ENST00000641236.1:n.1088C>T
ENST00000641319.1:c.*61C>T	ENSP00000493128.1:n.*61C>T
ENST00000641381.1:c.273C>T
ENST00000641471.1:c.938C>T	ENSP00000493146.1:p.Ala313Val
ENST00000641691.1:c.*703C>T	ENSP00000492910.1:n.*703C>T
ENST00000641924.1:c.*280C>T	ENSP00000493063.1:n.*280C>T
ENST00000642050.2:c.851C>T MANE Select	ENSP00000493153.1:p.Ala284Val
ENST00000372775.2:n.248C>T
ENST00000433473.7:c.851C>T	ENSP00000394863.3:p.Ala284Val
ENST00000439754.5:c.464C>T	ENSP00000403207.1:p.Ala155Val
ENST00000449045.6:c.542C>T	ENSP00000392293.2:p.Ala181Val
ENST00000529905.5:c.851C>T	ENSP00000432053.1:p.Ala284Val
ENST00000530076.5:c.194C>T	ENSP00000434007.1:p.Ala65Val
ENST00000530704.5:c.*474C>T	ENSP00000431655.1:n.*474C>T
NM_000310.3:c.851C>T , LRG_690t1:c.851C>T	NP_000301.1:p.Ala284Val
NM_001142604.1:c.542C>T	NP_001136076.1:p.Ala181Val
XM_005271008.1:c.779C>T	XP_005271065.1:p.Ala260Val
NM_001363695.1:c.779C>T	NP_001350624.1:p.Ala260Val
NM_000310.4:c.851C>T MANE Select	NP_000301.1:p.Ala284Val
NM_001142604.2:c.542C>T	NP_001136076.1:p.Ala181Val
NM_001363695.2:c.779C>T	NP_001350624.1:p.Ala260Val