Canonical Allele Identifier: CA263532

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56206
• ClinVar RCV Id: RCV000049617
• dbSNP Id: rs386833657
• gnomAD v4: 1-40080464-T-C
• MyVariant Identifiers: chr1:g.40546136T>C (hg19) ; chr1:g.40080464T>C (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080464T>C , CM000663.2:g.40080464T>C	GRCh38
NC_000001.10:g.40546136T>C , CM000663.1:g.40546136T>C	GRCh37
NC_000001.9:g.40318723T>C	NCBI36
NG_009192.1:g.22007A>G , LRG_690:g.22007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*396A>G	ENSP00000361865.5:n.*396A>G
ENST00000433473.8:c.557A>G	ENSP00000394863.4:p.His186Arg
ENST00000439754.6:c.560A>G	ENSP00000403207.2:p.His187Arg
ENST00000449045.7:c.251A>G	ENSP00000392293.2:p.His84Arg
ENST00000527311.7:c.329A>G	ENSP00000436695.3:p.His110Arg
ENST00000530076.6:c.-98A>G	ENSP00000434007.1:n.-98A>G
ENST00000530704.6:c.*183A>G	ENSP00000431655.1:n.*183A>G
ENST00000641083.1:c.538A>G
ENST00000641236.1:n.797A>G
ENST00000641319.1:c.560A>G	ENSP00000493128.1:p.His187Arg
ENST00000641381.1:c.149-3551A>G
ENST00000641471.1:c.647A>G	ENSP00000493146.1:p.His216Arg
ENST00000641691.1:c.*412A>G	ENSP00000492910.1:n.*412A>G
ENST00000641924.1:c.148A>G	ENSP00000493063.1:p.Met50Val
ENST00000642050.2:c.560A>G MANE Select	ENSP00000493153.1:p.His187Arg
ENST00000372779.8:c.647A>G	ENSP00000361865.4:p.His216Arg
ENST00000433473.7:c.560A>G	ENSP00000394863.3:p.His187Arg
ENST00000439754.5:c.245A>G	ENSP00000403207.1:p.His82Arg
ENST00000449045.6:c.251A>G	ENSP00000392293.2:p.His84Arg
ENST00000527311.6:c.335A>G	ENSP00000436695.2:p.His112Arg
ENST00000529905.5:c.560A>G	ENSP00000432053.1:p.His187Arg
ENST00000530076.5:c.-98A>G	ENSP00000434007.1:n.-98A>G
ENST00000530704.5:c.*183A>G	ENSP00000431655.1:n.*183A>G
NM_000310.3:c.560A>G , LRG_690t1:c.560A>G	NP_000301.1:p.His187Arg
NM_001142604.1:c.251A>G	NP_001136076.1:p.His84Arg
XM_005271008.1:c.560A>G	XP_005271065.1:p.His187Arg
NM_001363695.1:c.560A>G	NP_001350624.1:p.His187Arg
NM_000310.4:c.560A>G MANE Select	NP_000301.1:p.His187Arg
NM_001142604.2:c.251A>G	NP_001136076.1:p.His84Arg
NM_001363695.2:c.560A>G	NP_001350624.1:p.His187Arg