Canonical Allele Identifier: CA417321970

Gene: PPT1

Linked Data

• dbSNP Id: rs1648434067
• gnomAD v3: 1-40074100-T-C
• gnomAD v4: 1-40074100-T-C
• MyVariant Identifiers: chr1:g.40539772T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074100T>C , CM000663.2:g.40074100T>C	GRCh38
NC_000001.10:g.40539772T>C , CM000663.1:g.40539772T>C	GRCh37
NC_000001.9:g.40312359T>C	NCBI36
NG_009192.1:g.28371A>G , LRG_690:g.28371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.879A>G	ENSP00000394863.4:p.Glu293=
ENST00000439754.6:c.810A>G	ENSP00000403207.2:p.Glu270=
ENST00000449045.7:c.573A>G	ENSP00000392293.2:p.Glu191=
ENST00000530076.6:c.225A>G	ENSP00000434007.1:p.Glu75=
ENST00000530704.6:c.*505A>G	ENSP00000431655.1:n.*505A>G
ENST00000641083.1:c.972A>G
ENST00000641236.1:n.1119A>G
ENST00000641319.1:c.*92A>G	ENSP00000493128.1:n.*92A>G
ENST00000641381.1:c.304A>G
ENST00000641471.1:c.969A>G	ENSP00000493146.1:p.Glu323=
ENST00000641691.1:c.*734A>G	ENSP00000492910.1:n.*734A>G
ENST00000641924.1:c.*311A>G	ENSP00000493063.1:n.*311A>G
ENST00000642050.2:c.882A>G MANE Select	ENSP00000493153.1:p.Glu294=
ENST00000372775.2:n.279A>G
ENST00000433473.7:c.882A>G	ENSP00000394863.3:p.Glu294=
ENST00000439754.5:c.495A>G	ENSP00000403207.1:p.Glu165=
ENST00000449045.6:c.573A>G	ENSP00000392293.2:p.Glu191=
ENST00000529905.5:c.882A>G	ENSP00000432053.1:p.Glu294=
ENST00000530076.5:c.225A>G	ENSP00000434007.1:p.Glu75=
ENST00000530704.5:c.*505A>G	ENSP00000431655.1:n.*505A>G
NM_000310.3:c.882A>G , LRG_690t1:c.882A>G	NP_000301.1:p.Glu294=
NM_001142604.1:c.573A>G	NP_001136076.1:p.Glu191=
XM_005271008.1:c.810A>G	XP_005271065.1:p.Glu270=
NM_001363695.1:c.810A>G	NP_001350624.1:p.Glu270=
NM_000310.4:c.882A>G MANE Select	NP_000301.1:p.Glu294=
NM_001142604.2:c.573A>G	NP_001136076.1:p.Glu191=
NM_001363695.2:c.810A>G	NP_001350624.1:p.Glu270=