Canonical Allele Identifier: CA339846567

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544237A>T (hg19) ; chr1:g.40078565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078565A>T , CM000663.2:g.40078565A>T	GRCh38
NC_000001.10:g.40544237A>T , CM000663.1:g.40544237A>T	GRCh37
NC_000001.9:g.40316824A>T	NCBI36
NG_009192.1:g.23906T>A , LRG_690:g.23906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.718T>A	ENSP00000394863.4:p.Ser240Thr
ENST00000439754.6:c.721T>A	ENSP00000403207.2:p.Ser241Thr
ENST00000449045.7:c.412T>A	ENSP00000392293.2:p.Ser138Thr
ENST00000527311.7:c.490T>A	ENSP00000436695.3:p.Ser164Thr
ENST00000530076.6:c.64T>A	ENSP00000434007.1:p.Ser22Thr
ENST00000530704.6:c.*344T>A	ENSP00000431655.1:n.*344T>A
ENST00000641083.1:c.699T>A
ENST00000641236.1:n.958T>A
ENST00000641319.1:c.721T>A	ENSP00000493128.1:p.Ser241Thr
ENST00000641381.1:c.149-1652T>A
ENST00000641471.1:c.808T>A	ENSP00000493146.1:p.Ser270Thr
ENST00000641691.1:c.*573T>A	ENSP00000492910.1:n.*573T>A
ENST00000641924.1:c.*150T>A	ENSP00000493063.1:n.*150T>A
ENST00000642050.2:c.721T>A MANE Select	ENSP00000493153.1:p.Ser241Thr
ENST00000372775.2:n.118T>A
ENST00000372779.8:c.808T>A	ENSP00000361865.4:p.Ser270Thr
ENST00000433473.7:c.721T>A	ENSP00000394863.3:p.Ser241Thr
ENST00000439754.5:c.406T>A	ENSP00000403207.1:p.Ser136Thr
ENST00000449045.6:c.412T>A	ENSP00000392293.2:p.Ser138Thr
ENST00000527311.6:c.496T>A	ENSP00000436695.2:p.Ser166Thr
ENST00000529905.5:c.721T>A	ENSP00000432053.1:p.Ser241Thr
ENST00000530076.5:c.64T>A	ENSP00000434007.1:p.Ser22Thr
ENST00000530704.5:c.*344T>A	ENSP00000431655.1:n.*344T>A
NM_000310.3:c.721T>A , LRG_690t1:c.721T>A	NP_000301.1:p.Ser241Thr
NM_001142604.1:c.412T>A	NP_001136076.1:p.Ser138Thr
XM_005271008.1:c.721T>A	XP_005271065.1:p.Ser241Thr
NM_001363695.1:c.721T>A	NP_001350624.1:p.Ser241Thr
NM_000310.4:c.721T>A MANE Select	NP_000301.1:p.Ser241Thr
NM_001142604.2:c.412T>A	NP_001136076.1:p.Ser138Thr
NM_001363695.2:c.721T>A	NP_001350624.1:p.Ser241Thr