Canonical Allele Identifier: CA339845299

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2089614
• ClinVar RCV Id: RCV003005638
• MyVariant Identifiers: chr1:g.40539738C>G (hg19) ; chr1:g.40074066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074066C>G , CM000663.2:g.40074066C>G	GRCh38
NC_000001.10:g.40539738C>G , CM000663.1:g.40539738C>G	GRCh37
NC_000001.9:g.40312325C>G	NCBI36
NG_009192.1:g.28405G>C , LRG_690:g.28405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.913G>C	ENSP00000394863.4:p.Gly305Arg
ENST00000439754.6:c.844G>C	ENSP00000403207.2:p.Gly282Arg
ENST00000449045.7:c.607G>C	ENSP00000392293.2:p.Gly203Arg
ENST00000530076.6:c.259G>C	ENSP00000434007.1:p.Gly87Arg
ENST00000530704.6:c.*539G>C	ENSP00000431655.1:n.*539G>C
ENST00000641083.1:c.1006G>C
ENST00000641236.1:n.1153G>C
ENST00000641319.1:c.*126G>C	ENSP00000493128.1:n.*126G>C
ENST00000641381.1:c.338G>C
ENST00000641471.1:c.1003G>C	ENSP00000493146.1:p.Gly335Arg
ENST00000641691.1:c.*768G>C	ENSP00000492910.1:n.*768G>C
ENST00000641924.1:c.*345G>C	ENSP00000493063.1:n.*345G>C
ENST00000642050.2:c.916G>C MANE Select	ENSP00000493153.1:p.Gly306Arg
ENST00000372775.2:n.313G>C
ENST00000433473.7:c.916G>C	ENSP00000394863.3:p.Gly306Arg
ENST00000439754.5:c.529G>C	ENSP00000403207.1:p.Gly177Arg
ENST00000449045.6:c.607G>C	ENSP00000392293.2:p.Gly203Arg
ENST00000529905.5:c.916G>C	ENSP00000432053.1:p.Gly306Arg
ENST00000530076.5:c.259G>C	ENSP00000434007.1:p.Gly87Arg
ENST00000530704.5:c.*539G>C	ENSP00000431655.1:n.*539G>C
NM_000310.3:c.916G>C , LRG_690t1:c.916G>C	NP_000301.1:p.Gly306Arg
NM_001142604.1:c.607G>C	NP_001136076.1:p.Gly203Arg
XM_005271008.1:c.844G>C	XP_005271065.1:p.Gly282Arg
NM_001363695.1:c.844G>C	NP_001350624.1:p.Gly282Arg
NM_000310.4:c.916G>C MANE Select	NP_000301.1:p.Gly306Arg
NM_001142604.2:c.607G>C	NP_001136076.1:p.Gly203Arg
NM_001363695.2:c.844G>C	NP_001350624.1:p.Gly282Arg