Canonical Allele Identifier: CA263551

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56217
• ClinVar RCV Id: RCV000049628
• dbSNP Id: rs386833668
• MyVariant Identifiers: chr1:g.40539783G>A (hg19) ; chr1:g.40074111G>A (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074111G>A , CM000663.2:g.40074111G>A	GRCh38
NC_000001.10:g.40539783G>A , CM000663.1:g.40539783G>A	GRCh37
NC_000001.9:g.40312370G>A	NCBI36
NG_009192.1:g.28360C>T , LRG_690:g.28360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.868C>T	ENSP00000394863.4:p.Gln290Ter
ENST00000439754.6:c.799C>T	ENSP00000403207.2:p.Gln267Ter
ENST00000449045.7:c.562C>T	ENSP00000392293.2:p.Gln188Ter
ENST00000530076.6:c.214C>T	ENSP00000434007.1:p.Gln72Ter
ENST00000530704.6:c.*494C>T	ENSP00000431655.1:n.*494C>T
ENST00000641083.1:c.961C>T
ENST00000641236.1:n.1108C>T
ENST00000641319.1:c.*81C>T	ENSP00000493128.1:n.*81C>T
ENST00000641381.1:c.293C>T
ENST00000641471.1:c.958C>T	ENSP00000493146.1:p.Gln320Ter
ENST00000641691.1:c.*723C>T	ENSP00000492910.1:n.*723C>T
ENST00000641924.1:c.*300C>T	ENSP00000493063.1:n.*300C>T
ENST00000642050.2:c.871C>T MANE Select	ENSP00000493153.1:p.Gln291Ter
ENST00000372775.2:n.268C>T
ENST00000433473.7:c.871C>T	ENSP00000394863.3:p.Gln291Ter
ENST00000439754.5:c.484C>T	ENSP00000403207.1:p.Gln162Ter
ENST00000449045.6:c.562C>T	ENSP00000392293.2:p.Gln188Ter
ENST00000529905.5:c.871C>T	ENSP00000432053.1:p.Gln291Ter
ENST00000530076.5:c.214C>T	ENSP00000434007.1:p.Gln72Ter
ENST00000530704.5:c.*494C>T	ENSP00000431655.1:n.*494C>T
NM_000310.3:c.871C>T , LRG_690t1:c.871C>T	NP_000301.1:p.Gln291Ter
NM_001142604.1:c.562C>T	NP_001136076.1:p.Gln188Ter
XM_005271008.1:c.799C>T	XP_005271065.1:p.Gln267Ter
NM_001363695.1:c.799C>T	NP_001350624.1:p.Gln267Ter
NM_000310.4:c.871C>T MANE Select	NP_000301.1:p.Gln291Ter
NM_001142604.2:c.562C>T	NP_001136076.1:p.Gln188Ter
NM_001363695.2:c.799C>T	NP_001350624.1:p.Gln267Ter