Canonical Allele Identifier: CA339848855

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1026557
• ClinVar RCV Id: RCV001327024 ; RCV003284203
• dbSNP Id: rs1342695798
• gnomAD v2: 1-40557030-T-C
• gnomAD v4: 1-40091358-T-C
• MyVariant Identifiers: chr1:g.40557030T>C (hg19) ; chr1:g.40091358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091358T>C , CM000663.2:g.40091358T>C	GRCh38
NC_000001.10:g.40557030T>C , CM000663.1:g.40557030T>C	GRCh37
NC_000001.9:g.40329617T>C	NCBI36
NG_009192.1:g.11113A>G , LRG_690:g.11113A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*240A>G	ENSP00000361865.5:n.*240A>G
ENST00000433473.8:c.401A>G	ENSP00000394863.4:p.Asn134Ser
ENST00000439754.6:c.404A>G	ENSP00000403207.2:p.Asn135Ser
ENST00000449045.7:c.125-1846A>G	ENSP00000392293.2:n.125-1846A>G
ENST00000526547.2:c.684A>G
ENST00000527311.7:c.276A>G	ENSP00000436695.3:p.Gln92=
ENST00000530704.6:c.404A>G	ENSP00000431655.1:p.Asn135Ser
ENST00000641083.1:c.382A>G
ENST00000641236.1:n.641A>G
ENST00000641319.1:c.404A>G	ENSP00000493128.1:p.Asn135Ser
ENST00000641381.1:c.16A>G
ENST00000641471.1:c.491A>G	ENSP00000493146.1:p.Asn164Ser
ENST00000641548.1:c.*256A>G	ENSP00000492984.1:n.*256A>G
ENST00000641691.1:c.*256A>G	ENSP00000492910.1:n.*256A>G
ENST00000641924.1:c.124+5757A>G	ENSP00000493063.1:n.124+5757A>G
ENST00000642050.2:c.404A>G MANE Select	ENSP00000493153.1:p.Asn135Ser
ENST00000372779.8:c.491A>G	ENSP00000361865.4:p.Asn164Ser
ENST00000433473.7:c.404A>G	ENSP00000394863.3:p.Asn135Ser
ENST00000439754.5:c.89A>G	ENSP00000403207.1:p.Asn30Ser
ENST00000449045.6:c.125-1846A>G	ENSP00000392293.2:n.125-1846A>G
ENST00000526547.1:c.254A>G	ENSP00000436481.1:p.Asn85Ser
ENST00000527311.6:c.179A>G	ENSP00000436695.2:p.Asn60Ser
ENST00000529905.5:c.404A>G	ENSP00000432053.1:p.Asn135Ser
ENST00000530704.5:c.404A>G	ENSP00000431655.1:p.Asn135Ser
NM_000310.3:c.404A>G , LRG_690t1:c.404A>G	NP_000301.1:p.Asn135Ser
NM_001142604.1:c.125-1846A>G	NP_001136076.1:n.125-1846A>G
XM_005271008.1:c.404A>G	XP_005271065.1:p.Asn135Ser
NM_001363695.1:c.404A>G	NP_001350624.1:p.Asn135Ser
NM_000310.4:c.404A>G MANE Select	NP_000301.1:p.Asn135Ser
NM_001142604.2:c.125-1846A>G	NP_001136076.1:n.125-1846A>G
NM_001363695.2:c.404A>G	NP_001350624.1:p.Asn135Ser