Canonical Allele Identifier: CA789713

Gene: PPT1

Linked Data

• dbSNP Id: rs766149540
• ExAC: 1:40556974 A / G
• gnomAD v2: 1-40556974-A-G
• gnomAD v4: 1-40091302-A-G
• MyVariant Identifiers: chr1:g.40556974A>G (hg19) ; chr1:g.40091302A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091302A>G , CM000663.2:g.40091302A>G	GRCh38
NC_000001.10:g.40556974A>G , CM000663.1:g.40556974A>G	GRCh37
NC_000001.9:g.40329561A>G	NCBI36
NG_009192.1:g.11169T>C , LRG_690:g.11169T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+27T>C	ENSP00000361865.5:n.*269+27T>C
ENST00000433473.8:c.430+27T>C	ENSP00000394863.4:n.430+27T>C
ENST00000439754.6:c.433+27T>C	ENSP00000403207.2:n.433+27T>C
ENST00000449045.7:c.125-1790T>C	ENSP00000392293.2:n.125-1790T>C
ENST00000526547.2:c.713+27T>C
ENST00000527311.7:c.305+27T>C	ENSP00000436695.3:n.305+27T>C
ENST00000530704.6:c.433+27T>C	ENSP00000431655.1:n.433+27T>C
ENST00000641083.1:c.411+27T>C
ENST00000641236.1:n.670+27T>C
ENST00000641319.1:c.433+27T>C	ENSP00000493128.1:n.433+27T>C
ENST00000641381.1:c.45+27T>C
ENST00000641471.1:c.520+27T>C	ENSP00000493146.1:n.520+27T>C
ENST00000641548.1:c.*285+27T>C	ENSP00000492984.1:n.*285+27T>C
ENST00000641691.1:c.*285+27T>C	ENSP00000492910.1:n.*285+27T>C
ENST00000641924.1:c.124+5813T>C	ENSP00000493063.1:n.124+5813T>C
ENST00000642050.2:c.433+27T>C MANE Select	ENSP00000493153.1:n.433+27T>C
ENST00000372779.8:c.520+27T>C	ENSP00000361865.4:n.520+27T>C
ENST00000433473.7:c.433+27T>C	ENSP00000394863.3:n.433+27T>C
ENST00000439754.5:c.118+27T>C	ENSP00000403207.1:n.118+27T>C
ENST00000449045.6:c.125-1790T>C	ENSP00000392293.2:n.125-1790T>C
ENST00000526547.1:c.283+27T>C	ENSP00000436481.1:n.283+27T>C
ENST00000527311.6:c.208+27T>C	ENSP00000436695.2:n.208+27T>C
ENST00000529905.5:c.433+27T>C	ENSP00000432053.1:n.433+27T>C
ENST00000530704.5:c.433+27T>C	ENSP00000431655.1:n.433+27T>C
NM_000310.3:c.433+27T>C , LRG_690t1:c.433+27T>C	NP_000301.1:n.433+27T>C
NM_001142604.1:c.125-1790T>C	NP_001136076.1:n.125-1790T>C
XM_005271008.1:c.433+27T>C	XP_005271065.1:n.433+27T>C
NM_001363695.1:c.433+27T>C	NP_001350624.1:n.433+27T>C
NM_000310.4:c.433+27T>C MANE Select	NP_000301.1:n.433+27T>C
NM_001142604.2:c.125-1790T>C	NP_001136076.1:n.125-1790T>C
NM_001363695.2:c.433+27T>C	NP_001350624.1:n.433+27T>C