Canonical Allele Identifier: CA339849052

Gene: PPT1

Linked Data

• dbSNP Id: rs1187215454
• gnomAD v2: 1-40557756-C-A
• gnomAD v4: 1-40092084-C-A
• MyVariant Identifiers: chr1:g.40557756C>A (hg19) ; chr1:g.40092084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092084C>A , CM000663.2:g.40092084C>A	GRCh38
NC_000001.10:g.40557756C>A , CM000663.1:g.40557756C>A	GRCh37
NC_000001.9:g.40330343C>A	NCBI36
NG_009192.1:g.10387G>T , LRG_690:g.10387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*159G>T	ENSP00000361865.5:n.*159G>T
ENST00000433473.8:c.320G>T	ENSP00000394863.4:p.Gly107Val
ENST00000439754.6:c.323G>T	ENSP00000403207.2:p.Gly108Val
ENST00000449045.7:c.125-2572G>T	ENSP00000392293.2:n.125-2572G>T
ENST00000526547.2:c.603G>T
ENST00000527311.7:c.234+314G>T	ENSP00000436695.3:n.234+314G>T
ENST00000530704.6:c.323G>T	ENSP00000431655.1:p.Gly108Val
ENST00000641083.1:c.301G>T
ENST00000641236.1:n.560G>T
ENST00000641319.1:c.323G>T	ENSP00000493128.1:p.Gly108Val
ENST00000641471.1:c.410G>T	ENSP00000493146.1:p.Gly137Val
ENST00000641548.1:c.*175G>T	ENSP00000492984.1:n.*175G>T
ENST00000641691.1:c.*175G>T	ENSP00000492910.1:n.*175G>T
ENST00000641924.1:c.124+5031G>T	ENSP00000493063.1:n.124+5031G>T
ENST00000642050.2:c.323G>T MANE Select	ENSP00000493153.1:p.Gly108Val
ENST00000372779.8:c.410G>T	ENSP00000361865.4:p.Gly137Val
ENST00000433473.7:c.323G>T	ENSP00000394863.3:p.Gly108Val
ENST00000439754.5:c.8G>T	ENSP00000403207.1:p.Gly3Val
ENST00000449045.6:c.125-2572G>T	ENSP00000392293.2:n.125-2572G>T
ENST00000526547.1:c.173G>T	ENSP00000436481.1:p.Gly58Val
ENST00000527311.6:c.125-27G>T	ENSP00000436695.2:n.125-27G>T
ENST00000529905.5:c.323G>T	ENSP00000432053.1:p.Gly108Val
ENST00000530704.5:c.323G>T	ENSP00000431655.1:p.Gly108Val
NM_000310.3:c.323G>T , LRG_690t1:c.323G>T	NP_000301.1:p.Gly108Val
NM_001142604.1:c.125-2572G>T	NP_001136076.1:n.125-2572G>T
XM_005271008.1:c.323G>T	XP_005271065.1:p.Gly108Val
NM_001363695.1:c.323G>T	NP_001350624.1:p.Gly108Val
NM_000310.4:c.323G>T MANE Select	NP_000301.1:p.Gly108Val
NM_001142604.2:c.125-2572G>T	NP_001136076.1:n.125-2572G>T
NM_001363695.2:c.323G>T	NP_001350624.1:p.Gly108Val