Canonical Allele Identifier: CA339845478

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539777A>T (hg19) ; chr1:g.40074105A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074105A>T , CM000663.2:g.40074105A>T	GRCh38
NC_000001.10:g.40539777A>T , CM000663.1:g.40539777A>T	GRCh37
NC_000001.9:g.40312364A>T	NCBI36
NG_009192.1:g.28366T>A , LRG_690:g.28366T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.874T>A	ENSP00000394863.4:p.Ser292Thr
ENST00000439754.6:c.805T>A	ENSP00000403207.2:p.Ser269Thr
ENST00000449045.7:c.568T>A	ENSP00000392293.2:p.Ser190Thr
ENST00000530076.6:c.220T>A	ENSP00000434007.1:p.Ser74Thr
ENST00000530704.6:c.*500T>A	ENSP00000431655.1:n.*500T>A
ENST00000641083.1:c.967T>A
ENST00000641236.1:n.1114T>A
ENST00000641319.1:c.*87T>A	ENSP00000493128.1:n.*87T>A
ENST00000641381.1:c.299T>A
ENST00000641471.1:c.964T>A	ENSP00000493146.1:p.Ser322Thr
ENST00000641691.1:c.*729T>A	ENSP00000492910.1:n.*729T>A
ENST00000641924.1:c.*306T>A	ENSP00000493063.1:n.*306T>A
ENST00000642050.2:c.877T>A MANE Select	ENSP00000493153.1:p.Ser293Thr
ENST00000372775.2:n.274T>A
ENST00000433473.7:c.877T>A	ENSP00000394863.3:p.Ser293Thr
ENST00000439754.5:c.490T>A	ENSP00000403207.1:p.Ser164Thr
ENST00000449045.6:c.568T>A	ENSP00000392293.2:p.Ser190Thr
ENST00000529905.5:c.877T>A	ENSP00000432053.1:p.Ser293Thr
ENST00000530076.5:c.220T>A	ENSP00000434007.1:p.Ser74Thr
ENST00000530704.5:c.*500T>A	ENSP00000431655.1:n.*500T>A
NM_000310.3:c.877T>A , LRG_690t1:c.877T>A	NP_000301.1:p.Ser293Thr
NM_001142604.1:c.568T>A	NP_001136076.1:p.Ser190Thr
XM_005271008.1:c.805T>A	XP_005271065.1:p.Ser269Thr
NM_001363695.1:c.805T>A	NP_001350624.1:p.Ser269Thr
NM_000310.4:c.877T>A MANE Select	NP_000301.1:p.Ser293Thr
NM_001142604.2:c.568T>A	NP_001136076.1:p.Ser190Thr
NM_001363695.2:c.805T>A	NP_001350624.1:p.Ser269Thr