Canonical Allele Identifier: CA339850203

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092498-C-A
• MyVariant Identifiers: chr1:g.40558170C>A (hg19) ; chr1:g.40092498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092498C>A , CM000663.2:g.40092498C>A	GRCh38
NC_000001.10:g.40558170C>A , CM000663.1:g.40558170C>A	GRCh37
NC_000001.9:g.40330757C>A	NCBI36
NG_009192.1:g.9973G>T , LRG_690:g.9973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.138G>T	ENSP00000361865.5:p.Leu46=
ENST00000433473.8:c.131G>T	ENSP00000394863.4:p.Cys44Phe
ENST00000439754.6:c.134G>T	ENSP00000403207.2:p.Cys45Phe
ENST00000449045.7:c.125-2986G>T	ENSP00000392293.2:n.125-2986G>T
ENST00000526547.2:c.414G>T
ENST00000527311.7:c.134G>T	ENSP00000436695.3:p.Cys45Phe
ENST00000530704.6:c.134G>T	ENSP00000431655.1:p.Cys45Phe
ENST00000641083.1:c.112G>T
ENST00000641236.1:n.146G>T
ENST00000641319.1:c.134G>T	ENSP00000493128.1:p.Cys45Phe
ENST00000641471.1:c.221G>T	ENSP00000493146.1:p.Cys74Phe
ENST00000641548.1:c.127G>T	ENSP00000492984.1:p.Val43Phe
ENST00000641691.1:c.127G>T	ENSP00000492910.1:p.Val43Phe
ENST00000641924.1:c.124+4617G>T	ENSP00000493063.1:n.124+4617G>T
ENST00000642050.2:c.134G>T MANE Select	ENSP00000493153.1:p.Cys45Phe
ENST00000372779.8:c.221G>T	ENSP00000361865.4:p.Cys74Phe
ENST00000433473.7:c.134G>T	ENSP00000394863.3:p.Cys45Phe
ENST00000449045.6:c.125-2986G>T	ENSP00000392293.2:n.125-2986G>T
ENST00000526547.1:c.-17G>T	ENSP00000436481.1:n.-17G>T
ENST00000527311.6:c.125-441G>T	ENSP00000436695.2:n.125-441G>T
ENST00000529905.5:c.134G>T	ENSP00000432053.1:p.Cys45Phe
ENST00000530704.5:c.134G>T	ENSP00000431655.1:p.Cys45Phe
NM_000310.3:c.134G>T , LRG_690t1:c.134G>T	NP_000301.1:p.Cys45Phe
NM_001142604.1:c.125-2986G>T	NP_001136076.1:n.125-2986G>T
XM_005271008.1:c.134G>T	XP_005271065.1:p.Cys45Phe
NM_001363695.1:c.134G>T	NP_001350624.1:p.Cys45Phe
NM_000310.4:c.134G>T MANE Select	NP_000301.1:p.Cys45Phe
NM_001142604.2:c.125-2986G>T	NP_001136076.1:n.125-2986G>T
NM_001363695.2:c.134G>T	NP_001350624.1:p.Cys45Phe