Canonical Allele Identifier: CA339849292

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092147-T-C
• MyVariant Identifiers: chr1:g.40557819T>C (hg19) ; chr1:g.40092147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092147T>C , CM000663.2:g.40092147T>C	GRCh38
NC_000001.10:g.40557819T>C , CM000663.1:g.40557819T>C	GRCh37
NC_000001.9:g.40330406T>C	NCBI36
NG_009192.1:g.10324A>G , LRG_690:g.10324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*96A>G	ENSP00000361865.5:n.*96A>G
ENST00000433473.8:c.257A>G	ENSP00000394863.4:p.Asn86Ser
ENST00000439754.6:c.260A>G	ENSP00000403207.2:p.Asn87Ser
ENST00000449045.7:c.125-2635A>G	ENSP00000392293.2:n.125-2635A>G
ENST00000526547.2:c.540A>G
ENST00000527311.7:c.234+251A>G	ENSP00000436695.3:n.234+251A>G
ENST00000530704.6:c.260A>G	ENSP00000431655.1:p.Asn87Ser
ENST00000641083.1:c.238A>G
ENST00000641236.1:n.497A>G
ENST00000641319.1:c.260A>G	ENSP00000493128.1:p.Asn87Ser
ENST00000641471.1:c.347A>G	ENSP00000493146.1:p.Asn116Ser
ENST00000641548.1:c.*112A>G	ENSP00000492984.1:n.*112A>G
ENST00000641691.1:c.*112A>G	ENSP00000492910.1:n.*112A>G
ENST00000641924.1:c.124+4968A>G	ENSP00000493063.1:n.124+4968A>G
ENST00000642050.2:c.260A>G MANE Select	ENSP00000493153.1:p.Asn87Ser
ENST00000372779.8:c.347A>G	ENSP00000361865.4:p.Asn116Ser
ENST00000433473.7:c.260A>G	ENSP00000394863.3:p.Asn87Ser
ENST00000449045.6:c.125-2635A>G	ENSP00000392293.2:n.125-2635A>G
ENST00000526547.1:c.110A>G	ENSP00000436481.1:p.Asn37Ser
ENST00000527311.6:c.125-90A>G	ENSP00000436695.2:n.125-90A>G
ENST00000529905.5:c.260A>G	ENSP00000432053.1:p.Asn87Ser
ENST00000530704.5:c.260A>G	ENSP00000431655.1:p.Asn87Ser
NM_000310.3:c.260A>G , LRG_690t1:c.260A>G	NP_000301.1:p.Asn87Ser
NM_001142604.1:c.125-2635A>G	NP_001136076.1:n.125-2635A>G
XM_005271008.1:c.260A>G	XP_005271065.1:p.Asn87Ser
NM_001363695.1:c.260A>G	NP_001350624.1:p.Asn87Ser
NM_000310.4:c.260A>G MANE Select	NP_000301.1:p.Asn87Ser
NM_001142604.2:c.125-2635A>G	NP_001136076.1:n.125-2635A>G
NM_001363695.2:c.260A>G	NP_001350624.1:p.Asn87Ser