Canonical Allele Identifier: CA417322035

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1543189
• ClinVar RCV Id: RCV002182010
• dbSNP Id: rs2124465651
• gnomAD v3: 1-40074163-T-C
• gnomAD v4: 1-40074163-T-C
• MyVariant Identifiers: chr1:g.40539835T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074163T>C , CM000663.2:g.40074163T>C	GRCh38
NC_000001.10:g.40539835T>C , CM000663.1:g.40539835T>C	GRCh37
NC_000001.9:g.40312422T>C	NCBI36
NG_009192.1:g.28308A>G , LRG_690:g.28308A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.816A>G	ENSP00000394863.4:p.Glu272=
ENST00000439754.6:c.747A>G	ENSP00000403207.2:p.Glu249=
ENST00000449045.7:c.510A>G	ENSP00000392293.2:p.Glu170=
ENST00000527311.7:c.588A>G	ENSP00000436695.3:p.Glu196=
ENST00000530076.6:c.162A>G	ENSP00000434007.1:p.Glu54=
ENST00000530704.6:c.*442A>G	ENSP00000431655.1:n.*442A>G
ENST00000641083.1:c.909A>G
ENST00000641236.1:n.1056A>G
ENST00000641319.1:c.*29A>G	ENSP00000493128.1:n.*29A>G
ENST00000641381.1:c.241A>G
ENST00000641471.1:c.906A>G	ENSP00000493146.1:p.Glu302=
ENST00000641691.1:c.*671A>G	ENSP00000492910.1:n.*671A>G
ENST00000641924.1:c.*248A>G	ENSP00000493063.1:n.*248A>G
ENST00000642050.2:c.819A>G MANE Select	ENSP00000493153.1:p.Glu273=
ENST00000372775.2:n.216A>G
ENST00000433473.7:c.819A>G	ENSP00000394863.3:p.Glu273=
ENST00000439754.5:c.432A>G	ENSP00000403207.1:p.Glu144=
ENST00000449045.6:c.510A>G	ENSP00000392293.2:p.Glu170=
ENST00000527311.6:c.594A>G	ENSP00000436695.2:p.Glu198=
ENST00000529905.5:c.819A>G	ENSP00000432053.1:p.Glu273=
ENST00000530076.5:c.162A>G	ENSP00000434007.1:p.Glu54=
ENST00000530704.5:c.*442A>G	ENSP00000431655.1:n.*442A>G
NM_000310.3:c.819A>G , LRG_690t1:c.819A>G	NP_000301.1:p.Glu273=
NM_001142604.1:c.510A>G	NP_001136076.1:p.Glu170=
XM_005271008.1:c.747A>G	XP_005271065.1:p.Glu249=
NM_001363695.1:c.747A>G	NP_001350624.1:p.Glu249=
NM_000310.4:c.819A>G MANE Select	NP_000301.1:p.Glu273=
NM_001142604.2:c.510A>G	NP_001136076.1:p.Glu170=
NM_001363695.2:c.747A>G	NP_001350624.1:p.Glu249=