Canonical Allele Identifier: CA263559

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56220
• ClinVar RCV Id: RCV000049631
• dbSNP Id: rs386833671
• MyVariant Identifiers: chr1:g.40539740A>G (hg19) ; chr1:g.40074068A>G (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074068A>G , CM000663.2:g.40074068A>G	GRCh38
NC_000001.10:g.40539740A>G , CM000663.1:g.40539740A>G	GRCh37
NC_000001.9:g.40312327A>G	NCBI36
NG_009192.1:g.28403T>C , LRG_690:g.28403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.911T>C	ENSP00000394863.4:p.Leu304Pro
ENST00000439754.6:c.842T>C	ENSP00000403207.2:p.Leu281Pro
ENST00000449045.7:c.605T>C	ENSP00000392293.2:p.Leu202Pro
ENST00000530076.6:c.257T>C	ENSP00000434007.1:p.Leu86Pro
ENST00000530704.6:c.*537T>C	ENSP00000431655.1:n.*537T>C
ENST00000641083.1:c.1004T>C
ENST00000641236.1:n.1151T>C
ENST00000641319.1:c.*124T>C	ENSP00000493128.1:n.*124T>C
ENST00000641381.1:c.336T>C
ENST00000641471.1:c.1001T>C	ENSP00000493146.1:p.Leu334Pro
ENST00000641691.1:c.*766T>C	ENSP00000492910.1:n.*766T>C
ENST00000641924.1:c.*343T>C	ENSP00000493063.1:n.*343T>C
ENST00000642050.2:c.914T>C MANE Select	ENSP00000493153.1:p.Leu305Pro
ENST00000372775.2:n.311T>C
ENST00000433473.7:c.914T>C	ENSP00000394863.3:p.Leu305Pro
ENST00000439754.5:c.527T>C	ENSP00000403207.1:p.Leu176Pro
ENST00000449045.6:c.605T>C	ENSP00000392293.2:p.Leu202Pro
ENST00000529905.5:c.914T>C	ENSP00000432053.1:p.Leu305Pro
ENST00000530076.5:c.257T>C	ENSP00000434007.1:p.Leu86Pro
ENST00000530704.5:c.*537T>C	ENSP00000431655.1:n.*537T>C
NM_000310.3:c.914T>C , LRG_690t1:c.914T>C	NP_000301.1:p.Leu305Pro
NM_001142604.1:c.605T>C	NP_001136076.1:p.Leu202Pro
XM_005271008.1:c.842T>C	XP_005271065.1:p.Leu281Pro
NM_001363695.1:c.842T>C	NP_001350624.1:p.Leu281Pro
NM_000310.4:c.914T>C MANE Select	NP_000301.1:p.Leu305Pro
NM_001142604.2:c.605T>C	NP_001136076.1:p.Leu202Pro
NM_001363695.2:c.842T>C	NP_001350624.1:p.Leu281Pro