Canonical Allele Identifier: CA339848843

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091352-A-T
• MyVariant Identifiers: chr1:g.40557024A>T (hg19) ; chr1:g.40091352A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091352A>T , CM000663.2:g.40091352A>T	GRCh38
NC_000001.10:g.40557024A>T , CM000663.1:g.40557024A>T	GRCh37
NC_000001.9:g.40329611A>T	NCBI36
NG_009192.1:g.11119T>A , LRG_690:g.11119T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*246T>A	ENSP00000361865.5:n.*246T>A
ENST00000433473.8:c.407T>A	ENSP00000394863.4:p.Ile136Asn
ENST00000439754.6:c.410T>A	ENSP00000403207.2:p.Ile137Asn
ENST00000449045.7:c.125-1840T>A	ENSP00000392293.2:n.125-1840T>A
ENST00000526547.2:c.690T>A
ENST00000527311.7:c.282T>A	ENSP00000436695.3:p.Asp94Glu
ENST00000530704.6:c.410T>A	ENSP00000431655.1:p.Ile137Asn
ENST00000641083.1:c.388T>A
ENST00000641236.1:n.647T>A
ENST00000641319.1:c.410T>A	ENSP00000493128.1:p.Ile137Asn
ENST00000641381.1:c.22T>A
ENST00000641471.1:c.497T>A	ENSP00000493146.1:p.Ile166Asn
ENST00000641548.1:c.*262T>A	ENSP00000492984.1:n.*262T>A
ENST00000641691.1:c.*262T>A	ENSP00000492910.1:n.*262T>A
ENST00000641924.1:c.124+5763T>A	ENSP00000493063.1:n.124+5763T>A
ENST00000642050.2:c.410T>A MANE Select	ENSP00000493153.1:p.Ile137Asn
ENST00000372779.8:c.497T>A	ENSP00000361865.4:p.Ile166Asn
ENST00000433473.7:c.410T>A	ENSP00000394863.3:p.Ile137Asn
ENST00000439754.5:c.95T>A	ENSP00000403207.1:p.Ile32Asn
ENST00000449045.6:c.125-1840T>A	ENSP00000392293.2:n.125-1840T>A
ENST00000526547.1:c.260T>A	ENSP00000436481.1:p.Ile87Asn
ENST00000527311.6:c.185T>A	ENSP00000436695.2:p.Ile62Asn
ENST00000529905.5:c.410T>A	ENSP00000432053.1:p.Ile137Asn
ENST00000530704.5:c.410T>A	ENSP00000431655.1:p.Ile137Asn
NM_000310.3:c.410T>A , LRG_690t1:c.410T>A	NP_000301.1:p.Ile137Asn
NM_001142604.1:c.125-1840T>A	NP_001136076.1:n.125-1840T>A
XM_005271008.1:c.410T>A	XP_005271065.1:p.Ile137Asn
NM_001363695.1:c.410T>A	NP_001350624.1:p.Ile137Asn
NM_000310.4:c.410T>A MANE Select	NP_000301.1:p.Ile137Asn
NM_001142604.2:c.125-1840T>A	NP_001136076.1:n.125-1840T>A
NM_001363695.2:c.410T>A	NP_001350624.1:p.Ile137Asn