Canonical Allele Identifier: CA789753

Gene: PPT1

Linked Data

• ClinVar Variation Id: 516505
• ClinVar RCV Id: RCV000606522 ; RCV001464139
• dbSNP Id: rs375820734
• ExAC: 1:40557791 A / G
• gnomAD v3: 1-40092119-A-G
• gnomAD v4: 1-40092119-A-G
• MyVariant Identifiers: chr1:g.40557791A>G (hg19) ; chr1:g.40092119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092119A>G , CM000663.2:g.40092119A>G	GRCh38
NC_000001.10:g.40557791A>G , CM000663.1:g.40557791A>G	GRCh37
NC_000001.9:g.40330378A>G	NCBI36
NG_009192.1:g.10352T>C , LRG_690:g.10352T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*124T>C	ENSP00000361865.5:n.*124T>C
ENST00000433473.8:c.285T>C	ENSP00000394863.4:p.Cys95=
ENST00000439754.6:c.288T>C	ENSP00000403207.2:p.Cys96=
ENST00000449045.7:c.125-2607T>C	ENSP00000392293.2:n.125-2607T>C
ENST00000526547.2:c.568T>C
ENST00000527311.7:c.234+279T>C	ENSP00000436695.3:n.234+279T>C
ENST00000530704.6:c.288T>C	ENSP00000431655.1:p.Cys96=
ENST00000641083.1:c.266T>C
ENST00000641236.1:n.525T>C
ENST00000641319.1:c.288T>C	ENSP00000493128.1:p.Cys96=
ENST00000641471.1:c.375T>C	ENSP00000493146.1:p.Cys125=
ENST00000641548.1:c.*140T>C	ENSP00000492984.1:n.*140T>C
ENST00000641691.1:c.*140T>C	ENSP00000492910.1:n.*140T>C
ENST00000641924.1:c.124+4996T>C	ENSP00000493063.1:n.124+4996T>C
ENST00000642050.2:c.288T>C MANE Select	ENSP00000493153.1:p.Cys96=
ENST00000372779.8:c.375T>C	ENSP00000361865.4:p.Cys125=
ENST00000433473.7:c.288T>C	ENSP00000394863.3:p.Cys96=
ENST00000449045.6:c.125-2607T>C	ENSP00000392293.2:n.125-2607T>C
ENST00000526547.1:c.138T>C	ENSP00000436481.1:p.Cys46=
ENST00000527311.6:c.125-62T>C	ENSP00000436695.2:n.125-62T>C
ENST00000529905.5:c.288T>C	ENSP00000432053.1:p.Cys96=
ENST00000530704.5:c.288T>C	ENSP00000431655.1:p.Cys96=
NM_000310.3:c.288T>C , LRG_690t1:c.288T>C	NP_000301.1:p.Cys96=
NM_001142604.1:c.125-2607T>C	NP_001136076.1:n.125-2607T>C
XM_005271008.1:c.288T>C	XP_005271065.1:p.Cys96=
NM_001363695.1:c.288T>C	NP_001350624.1:p.Cys96=
NM_000310.4:c.288T>C MANE Select	NP_000301.1:p.Cys96=
NM_001142604.2:c.125-2607T>C	NP_001136076.1:n.125-2607T>C
NM_001363695.2:c.288T>C	NP_001350624.1:p.Cys96=