Canonical Allele Identifier: CA339845589

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539801T>C (hg19) ; chr1:g.40074129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074129T>C , CM000663.2:g.40074129T>C	GRCh38
NC_000001.10:g.40539801T>C , CM000663.1:g.40539801T>C	GRCh37
NC_000001.9:g.40312388T>C	NCBI36
NG_009192.1:g.28342A>G , LRG_690:g.28342A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.850A>G	ENSP00000394863.4:p.Thr284Ala
ENST00000439754.6:c.781A>G	ENSP00000403207.2:p.Thr261Ala
ENST00000449045.7:c.544A>G	ENSP00000392293.2:p.Thr182Ala
ENST00000527311.7:c.622A>G	ENSP00000436695.3:p.Thr208Ala
ENST00000530076.6:c.196A>G	ENSP00000434007.1:p.Thr66Ala
ENST00000530704.6:c.*476A>G	ENSP00000431655.1:n.*476A>G
ENST00000641083.1:c.943A>G
ENST00000641236.1:n.1090A>G
ENST00000641319.1:c.*63A>G	ENSP00000493128.1:n.*63A>G
ENST00000641381.1:c.275A>G
ENST00000641471.1:c.940A>G	ENSP00000493146.1:p.Thr314Ala
ENST00000641691.1:c.*705A>G	ENSP00000492910.1:n.*705A>G
ENST00000641924.1:c.*282A>G	ENSP00000493063.1:n.*282A>G
ENST00000642050.2:c.853A>G MANE Select	ENSP00000493153.1:p.Thr285Ala
ENST00000372775.2:n.250A>G
ENST00000433473.7:c.853A>G	ENSP00000394863.3:p.Thr285Ala
ENST00000439754.5:c.466A>G	ENSP00000403207.1:p.Thr156Ala
ENST00000449045.6:c.544A>G	ENSP00000392293.2:p.Thr182Ala
ENST00000529905.5:c.853A>G	ENSP00000432053.1:p.Thr285Ala
ENST00000530076.5:c.196A>G	ENSP00000434007.1:p.Thr66Ala
ENST00000530704.5:c.*476A>G	ENSP00000431655.1:n.*476A>G
NM_000310.3:c.853A>G , LRG_690t1:c.853A>G	NP_000301.1:p.Thr285Ala
NM_001142604.1:c.544A>G	NP_001136076.1:p.Thr182Ala
XM_005271008.1:c.781A>G	XP_005271065.1:p.Thr261Ala
NM_001363695.1:c.781A>G	NP_001350624.1:p.Thr261Ala
NM_000310.4:c.853A>G MANE Select	NP_000301.1:p.Thr285Ala
NM_001142604.2:c.544A>G	NP_001136076.1:p.Thr182Ala
NM_001363695.2:c.781A>G	NP_001350624.1:p.Thr261Ala