Canonical Allele Identifier: CA339845803

Gene: PPT1

Linked Data

• dbSNP Id: rs1460357749
• gnomAD v2: 1-40539845-C-T
• gnomAD v4: 1-40074173-C-T
• MyVariant Identifiers: chr1:g.40539845C>T (hg19) ; chr1:g.40074173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074173C>T , CM000663.2:g.40074173C>T	GRCh38
NC_000001.10:g.40539845C>T , CM000663.1:g.40539845C>T	GRCh37
NC_000001.9:g.40312432C>T	NCBI36
NG_009192.1:g.28298G>A , LRG_690:g.28298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.806G>A	ENSP00000394863.4:p.Gly269Glu
ENST00000439754.6:c.737G>A	ENSP00000403207.2:p.Gly246Glu
ENST00000449045.7:c.500G>A	ENSP00000392293.2:p.Gly167Glu
ENST00000527311.7:c.578G>A	ENSP00000436695.3:p.Gly193Glu
ENST00000530076.6:c.152G>A	ENSP00000434007.1:p.Gly51Glu
ENST00000530704.6:c.*432G>A	ENSP00000431655.1:n.*432G>A
ENST00000641083.1:c.899G>A
ENST00000641236.1:n.1046G>A
ENST00000641319.1:c.*19G>A	ENSP00000493128.1:n.*19G>A
ENST00000641381.1:c.231G>A
ENST00000641471.1:c.896G>A	ENSP00000493146.1:p.Gly299Glu
ENST00000641691.1:c.*661G>A	ENSP00000492910.1:n.*661G>A
ENST00000641924.1:c.*238G>A	ENSP00000493063.1:n.*238G>A
ENST00000642050.2:c.809G>A MANE Select	ENSP00000493153.1:p.Gly270Glu
ENST00000372775.2:n.206G>A
ENST00000433473.7:c.809G>A	ENSP00000394863.3:p.Gly270Glu
ENST00000439754.5:c.422G>A	ENSP00000403207.1:p.Gly141Glu
ENST00000449045.6:c.500G>A	ENSP00000392293.2:p.Gly167Glu
ENST00000527311.6:c.584G>A	ENSP00000436695.2:p.Gly195Glu
ENST00000529905.5:c.809G>A	ENSP00000432053.1:p.Gly270Glu
ENST00000530076.5:c.152G>A	ENSP00000434007.1:p.Gly51Glu
ENST00000530704.5:c.*432G>A	ENSP00000431655.1:n.*432G>A
NM_000310.3:c.809G>A , LRG_690t1:c.809G>A	NP_000301.1:p.Gly270Glu
NM_001142604.1:c.500G>A	NP_001136076.1:p.Gly167Glu
XM_005271008.1:c.737G>A	XP_005271065.1:p.Gly246Glu
NM_001363695.1:c.737G>A	NP_001350624.1:p.Gly246Glu
NM_000310.4:c.809G>A MANE Select	NP_000301.1:p.Gly270Glu
NM_001142604.2:c.500G>A	NP_001136076.1:p.Gly167Glu
NM_001363695.2:c.737G>A	NP_001350624.1:p.Gly246Glu