Canonical Allele Identifier: CA339850172

Gene: PPT1

Linked Data

• dbSNP Id: rs1649626474
• MyVariant Identifiers: chr1:g.40558167C>T (hg19) ; chr1:g.40092495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092495C>T , CM000663.2:g.40092495C>T	GRCh38
NC_000001.10:g.40558167C>T , CM000663.1:g.40558167C>T	GRCh37
NC_000001.9:g.40330754C>T	NCBI36
NG_009192.1:g.9976G>A , LRG_690:g.9976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.141G>A	ENSP00000361865.5:p.Leu47=
ENST00000433473.8:c.134G>A	ENSP00000394863.4:p.Cys45Tyr
ENST00000439754.6:c.137G>A	ENSP00000403207.2:p.Cys46Tyr
ENST00000449045.7:c.125-2983G>A	ENSP00000392293.2:n.125-2983G>A
ENST00000526547.2:c.417G>A
ENST00000527311.7:c.137G>A	ENSP00000436695.3:p.Cys46Tyr
ENST00000530704.6:c.137G>A	ENSP00000431655.1:p.Cys46Tyr
ENST00000641083.1:c.115G>A
ENST00000641236.1:n.149G>A
ENST00000641319.1:c.137G>A	ENSP00000493128.1:p.Cys46Tyr
ENST00000641471.1:c.224G>A	ENSP00000493146.1:p.Cys75Tyr
ENST00000641548.1:c.130G>A	ENSP00000492984.1:p.Ala44Thr
ENST00000641691.1:c.130G>A	ENSP00000492910.1:p.Ala44Thr
ENST00000641924.1:c.124+4620G>A	ENSP00000493063.1:n.124+4620G>A
ENST00000642050.2:c.137G>A MANE Select	ENSP00000493153.1:p.Cys46Tyr
ENST00000372779.8:c.224G>A	ENSP00000361865.4:p.Cys75Tyr
ENST00000433473.7:c.137G>A	ENSP00000394863.3:p.Cys46Tyr
ENST00000449045.6:c.125-2983G>A	ENSP00000392293.2:n.125-2983G>A
ENST00000526547.1:c.-14G>A	ENSP00000436481.1:n.-14G>A
ENST00000527311.6:c.125-438G>A	ENSP00000436695.2:n.125-438G>A
ENST00000529905.5:c.137G>A	ENSP00000432053.1:p.Cys46Tyr
ENST00000530704.5:c.137G>A	ENSP00000431655.1:p.Cys46Tyr
NM_000310.3:c.137G>A , LRG_690t1:c.137G>A	NP_000301.1:p.Cys46Tyr
NM_001142604.1:c.125-2983G>A	NP_001136076.1:n.125-2983G>A
XM_005271008.1:c.137G>A	XP_005271065.1:p.Cys46Tyr
NM_001363695.1:c.137G>A	NP_001350624.1:p.Cys46Tyr
NM_000310.4:c.137G>A MANE Select	NP_000301.1:p.Cys46Tyr
NM_001142604.2:c.125-2983G>A	NP_001136076.1:n.125-2983G>A
NM_001363695.2:c.137G>A	NP_001350624.1:p.Cys46Tyr