Canonical Allele Identifier: CA417321984

Gene: PPT1

Linked Data

• COSMIC: COSM4918168
• MyVariant Identifiers: chr1:g.40539787A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074115A>G , CM000663.2:g.40074115A>G	GRCh38
NC_000001.10:g.40539787A>G , CM000663.1:g.40539787A>G	GRCh37
NC_000001.9:g.40312374A>G	NCBI36
NG_009192.1:g.28356T>C , LRG_690:g.28356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.864T>C	ENSP00000394863.4:p.His288=
ENST00000439754.6:c.795T>C	ENSP00000403207.2:p.His265=
ENST00000449045.7:c.558T>C	ENSP00000392293.2:p.His186=
ENST00000530076.6:c.210T>C	ENSP00000434007.1:p.His70=
ENST00000530704.6:c.*490T>C	ENSP00000431655.1:n.*490T>C
ENST00000641083.1:c.957T>C
ENST00000641236.1:n.1104T>C
ENST00000641319.1:c.*77T>C	ENSP00000493128.1:n.*77T>C
ENST00000641381.1:c.289T>C
ENST00000641471.1:c.954T>C	ENSP00000493146.1:p.His318=
ENST00000641691.1:c.*719T>C	ENSP00000492910.1:n.*719T>C
ENST00000641924.1:c.*296T>C	ENSP00000493063.1:n.*296T>C
ENST00000642050.2:c.867T>C MANE Select	ENSP00000493153.1:p.His289=
ENST00000372775.2:n.264T>C
ENST00000433473.7:c.867T>C	ENSP00000394863.3:p.His289=
ENST00000439754.5:c.480T>C	ENSP00000403207.1:p.His160=
ENST00000449045.6:c.558T>C	ENSP00000392293.2:p.His186=
ENST00000529905.5:c.867T>C	ENSP00000432053.1:p.His289=
ENST00000530076.5:c.210T>C	ENSP00000434007.1:p.His70=
ENST00000530704.5:c.*490T>C	ENSP00000431655.1:n.*490T>C
NM_000310.3:c.867T>C , LRG_690t1:c.867T>C	NP_000301.1:p.His289=
NM_001142604.1:c.558T>C	NP_001136076.1:p.His186=
XM_005271008.1:c.795T>C	XP_005271065.1:p.His265=
NM_001363695.1:c.795T>C	NP_001350624.1:p.His265=
NM_000310.4:c.867T>C MANE Select	NP_000301.1:p.His289=
NM_001142604.2:c.558T>C	NP_001136076.1:p.His186=
NM_001363695.2:c.795T>C	NP_001350624.1:p.His265=