Canonical Allele Identifier: CA339845485

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539779A>T (hg19) ; chr1:g.40074107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074107A>T , CM000663.2:g.40074107A>T	GRCh38
NC_000001.10:g.40539779A>T , CM000663.1:g.40539779A>T	GRCh37
NC_000001.9:g.40312366A>T	NCBI36
NG_009192.1:g.28364T>A , LRG_690:g.28364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.872T>A	ENSP00000394863.4:p.Leu291Ter
ENST00000439754.6:c.803T>A	ENSP00000403207.2:p.Leu268Ter
ENST00000449045.7:c.566T>A	ENSP00000392293.2:p.Leu189Ter
ENST00000530076.6:c.218T>A	ENSP00000434007.1:p.Leu73Ter
ENST00000530704.6:c.*498T>A	ENSP00000431655.1:n.*498T>A
ENST00000641083.1:c.965T>A
ENST00000641236.1:n.1112T>A
ENST00000641319.1:c.*85T>A	ENSP00000493128.1:n.*85T>A
ENST00000641381.1:c.297T>A
ENST00000641471.1:c.962T>A	ENSP00000493146.1:p.Leu321Ter
ENST00000641691.1:c.*727T>A	ENSP00000492910.1:n.*727T>A
ENST00000641924.1:c.*304T>A	ENSP00000493063.1:n.*304T>A
ENST00000642050.2:c.875T>A MANE Select	ENSP00000493153.1:p.Leu292Ter
ENST00000372775.2:n.272T>A
ENST00000433473.7:c.875T>A	ENSP00000394863.3:p.Leu292Ter
ENST00000439754.5:c.488T>A	ENSP00000403207.1:p.Leu163Ter
ENST00000449045.6:c.566T>A	ENSP00000392293.2:p.Leu189Ter
ENST00000529905.5:c.875T>A	ENSP00000432053.1:p.Leu292Ter
ENST00000530076.5:c.218T>A	ENSP00000434007.1:p.Leu73Ter
ENST00000530704.5:c.*498T>A	ENSP00000431655.1:n.*498T>A
NM_000310.3:c.875T>A , LRG_690t1:c.875T>A	NP_000301.1:p.Leu292Ter
NM_001142604.1:c.566T>A	NP_001136076.1:p.Leu189Ter
XM_005271008.1:c.803T>A	XP_005271065.1:p.Leu268Ter
NM_001363695.1:c.803T>A	NP_001350624.1:p.Leu268Ter
NM_000310.4:c.875T>A MANE Select	NP_000301.1:p.Leu292Ter
NM_001142604.2:c.566T>A	NP_001136076.1:p.Leu189Ter
NM_001363695.2:c.803T>A	NP_001350624.1:p.Leu268Ter