Canonical Allele Identifier: CA339845458

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074101-T-C
• MyVariant Identifiers: chr1:g.40539773T>C (hg19) ; chr1:g.40074101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074101T>C , CM000663.2:g.40074101T>C	GRCh38
NC_000001.10:g.40539773T>C , CM000663.1:g.40539773T>C	GRCh37
NC_000001.9:g.40312360T>C	NCBI36
NG_009192.1:g.28370A>G , LRG_690:g.28370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.878A>G	ENSP00000394863.4:p.Glu293Gly
ENST00000439754.6:c.809A>G	ENSP00000403207.2:p.Glu270Gly
ENST00000449045.7:c.572A>G	ENSP00000392293.2:p.Glu191Gly
ENST00000530076.6:c.224A>G	ENSP00000434007.1:p.Glu75Gly
ENST00000530704.6:c.*504A>G	ENSP00000431655.1:n.*504A>G
ENST00000641083.1:c.971A>G
ENST00000641236.1:n.1118A>G
ENST00000641319.1:c.*91A>G	ENSP00000493128.1:n.*91A>G
ENST00000641381.1:c.303A>G
ENST00000641471.1:c.968A>G	ENSP00000493146.1:p.Glu323Gly
ENST00000641691.1:c.*733A>G	ENSP00000492910.1:n.*733A>G
ENST00000641924.1:c.*310A>G	ENSP00000493063.1:n.*310A>G
ENST00000642050.2:c.881A>G MANE Select	ENSP00000493153.1:p.Glu294Gly
ENST00000372775.2:n.278A>G
ENST00000433473.7:c.881A>G	ENSP00000394863.3:p.Glu294Gly
ENST00000439754.5:c.494A>G	ENSP00000403207.1:p.Glu165Gly
ENST00000449045.6:c.572A>G	ENSP00000392293.2:p.Glu191Gly
ENST00000529905.5:c.881A>G	ENSP00000432053.1:p.Glu294Gly
ENST00000530076.5:c.224A>G	ENSP00000434007.1:p.Glu75Gly
ENST00000530704.5:c.*504A>G	ENSP00000431655.1:n.*504A>G
NM_000310.3:c.881A>G , LRG_690t1:c.881A>G	NP_000301.1:p.Glu294Gly
NM_001142604.1:c.572A>G	NP_001136076.1:p.Glu191Gly
XM_005271008.1:c.809A>G	XP_005271065.1:p.Glu270Gly
NM_001363695.1:c.809A>G	NP_001350624.1:p.Glu270Gly
NM_000310.4:c.881A>G MANE Select	NP_000301.1:p.Glu294Gly
NM_001142604.2:c.572A>G	NP_001136076.1:p.Glu191Gly
NM_001363695.2:c.809A>G	NP_001350624.1:p.Glu270Gly