Canonical Allele Identifier: CA417322833

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092167-C-T
• MyVariant Identifiers: chr1:g.40557839C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092167C>T , CM000663.2:g.40092167C>T	GRCh38
NC_000001.10:g.40557839C>T , CM000663.1:g.40557839C>T	GRCh37
NC_000001.9:g.40330426C>T	NCBI36
NG_009192.1:g.10304G>A , LRG_690:g.10304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*76G>A	ENSP00000361865.5:n.*76G>A
ENST00000433473.8:c.237G>A	ENSP00000394863.4:p.Val79=
ENST00000439754.6:c.240G>A	ENSP00000403207.2:p.Val80=
ENST00000449045.7:c.125-2655G>A	ENSP00000392293.2:n.125-2655G>A
ENST00000526547.2:c.520G>A
ENST00000527311.7:c.234+231G>A	ENSP00000436695.3:n.234+231G>A
ENST00000530704.6:c.240G>A	ENSP00000431655.1:p.Val80=
ENST00000641083.1:c.218G>A
ENST00000641236.1:n.477G>A
ENST00000641319.1:c.240G>A	ENSP00000493128.1:p.Val80=
ENST00000641471.1:c.327G>A	ENSP00000493146.1:p.Val109=
ENST00000641548.1:c.*92G>A	ENSP00000492984.1:n.*92G>A
ENST00000641691.1:c.*92G>A	ENSP00000492910.1:n.*92G>A
ENST00000641924.1:c.124+4948G>A	ENSP00000493063.1:n.124+4948G>A
ENST00000642050.2:c.240G>A MANE Select	ENSP00000493153.1:p.Val80=
ENST00000372779.8:c.327G>A	ENSP00000361865.4:p.Val109=
ENST00000433473.7:c.240G>A	ENSP00000394863.3:p.Val80=
ENST00000449045.6:c.125-2655G>A	ENSP00000392293.2:n.125-2655G>A
ENST00000526547.1:c.90G>A	ENSP00000436481.1:p.Val30=
ENST00000527311.6:c.125-110G>A	ENSP00000436695.2:n.125-110G>A
ENST00000529905.5:c.240G>A	ENSP00000432053.1:p.Val80=
ENST00000530704.5:c.240G>A	ENSP00000431655.1:p.Val80=
NM_000310.3:c.240G>A , LRG_690t1:c.240G>A	NP_000301.1:p.Val80=
NM_001142604.1:c.125-2655G>A	NP_001136076.1:n.125-2655G>A
XM_005271008.1:c.240G>A	XP_005271065.1:p.Val80=
NM_001363695.1:c.240G>A	NP_001350624.1:p.Val80=
NM_000310.4:c.240G>A MANE Select	NP_000301.1:p.Val80=
NM_001142604.2:c.125-2655G>A	NP_001136076.1:n.125-2655G>A
NM_001363695.2:c.240G>A	NP_001350624.1:p.Val80=