Canonical Allele Identifier: CA263473

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56179
• ClinVar RCV Id: RCV000049590 ; RCV003317067
• dbSNP Id: rs386833631
• gnomAD v4: 1-40092507-C-T
• MyVariant Identifiers: chr1:g.40558179C>T (hg19) ; chr1:g.40092507C>T (hg38)
• PubMed: PMID:9664077 ; PMID:11073228 ; PMID:11440996 ; PMID:14997939 ; PMID:19440452 ; PMID:19793631 ; PMID:21228398 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092507C>T , CM000663.2:g.40092507C>T	GRCh38
NC_000001.10:g.40558179C>T , CM000663.1:g.40558179C>T	GRCh37
NC_000001.9:g.40330766C>T	NCBI36
NG_009192.1:g.9964G>A , LRG_690:g.9964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129G>A	ENSP00000361865.5:p.Glu43=
ENST00000433473.8:c.125-3G>A	ENSP00000394863.4:n.125-3G>A
ENST00000439754.6:c.125G>A	ENSP00000403207.2:p.Gly42Glu
ENST00000449045.7:c.125-2995G>A	ENSP00000392293.2:n.125-2995G>A
ENST00000526547.2:c.405G>A
ENST00000527311.7:c.125G>A	ENSP00000436695.3:p.Gly42Glu
ENST00000530704.6:c.125G>A	ENSP00000431655.1:p.Gly42Glu
ENST00000641083.1:c.103G>A
ENST00000641236.1:n.137G>A
ENST00000641319.1:c.125G>A	ENSP00000493128.1:p.Gly42Glu
ENST00000641471.1:c.212G>A	ENSP00000493146.1:p.Gly71Glu
ENST00000641548.1:c.125-7G>A	ENSP00000492984.1:n.125-7G>A
ENST00000641691.1:c.125-7G>A	ENSP00000492910.1:n.125-7G>A
ENST00000641924.1:c.124+4608G>A	ENSP00000493063.1:n.124+4608G>A
ENST00000642050.2:c.125G>A MANE Select	ENSP00000493153.1:p.Gly42Glu
ENST00000372779.8:c.212G>A	ENSP00000361865.4:p.Gly71Glu
ENST00000433473.7:c.125G>A	ENSP00000394863.3:p.Gly42Glu
ENST00000449045.6:c.125-2995G>A	ENSP00000392293.2:n.125-2995G>A
ENST00000526547.1:c.-26G>A	ENSP00000436481.1:n.-26G>A
ENST00000527311.6:c.125-450G>A	ENSP00000436695.2:n.125-450G>A
ENST00000529905.5:c.125G>A	ENSP00000432053.1:p.Gly42Glu
ENST00000530704.5:c.125G>A	ENSP00000431655.1:p.Gly42Glu
NM_000310.3:c.125G>A , LRG_690t1:c.125G>A	NP_000301.1:p.Gly42Glu
NM_001142604.1:c.125-2995G>A	NP_001136076.1:n.125-2995G>A
XM_005271008.1:c.125G>A	XP_005271065.1:p.Gly42Glu
NM_001363695.1:c.125G>A	NP_001350624.1:p.Gly42Glu
NM_000310.4:c.125G>A MANE Select	NP_000301.1:p.Gly42Glu
NM_001142604.2:c.125-2995G>A	NP_001136076.1:n.125-2995G>A
NM_001363695.2:c.125G>A	NP_001350624.1:p.Gly42Glu