Canonical Allele Identifier: CA339845379

Gene: PPT1

Linked Data

• dbSNP Id: rs781759073
• gnomAD v3: 1-40074088-A-C
• gnomAD v4: 1-40074088-A-C
• MyVariant Identifiers: chr1:g.40539760A>C (hg19) ; chr1:g.40074088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074088A>C , CM000663.2:g.40074088A>C	GRCh38
NC_000001.10:g.40539760A>C , CM000663.1:g.40539760A>C	GRCh37
NC_000001.9:g.40312347A>C	NCBI36
NG_009192.1:g.28383T>G , LRG_690:g.28383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.891T>G	ENSP00000394863.4:p.Tyr297Ter
ENST00000439754.6:c.822T>G	ENSP00000403207.2:p.Tyr274Ter
ENST00000449045.7:c.585T>G	ENSP00000392293.2:p.Tyr195Ter
ENST00000530076.6:c.237T>G	ENSP00000434007.1:p.Tyr79Ter
ENST00000530704.6:c.*517T>G	ENSP00000431655.1:n.*517T>G
ENST00000641083.1:c.984T>G
ENST00000641236.1:n.1131T>G
ENST00000641319.1:c.*104T>G	ENSP00000493128.1:n.*104T>G
ENST00000641381.1:c.316T>G
ENST00000641471.1:c.981T>G	ENSP00000493146.1:p.Tyr327Ter
ENST00000641691.1:c.*746T>G	ENSP00000492910.1:n.*746T>G
ENST00000641924.1:c.*323T>G	ENSP00000493063.1:n.*323T>G
ENST00000642050.2:c.894T>G MANE Select	ENSP00000493153.1:p.Tyr298Ter
ENST00000372775.2:n.291T>G
ENST00000433473.7:c.894T>G	ENSP00000394863.3:p.Tyr298Ter
ENST00000439754.5:c.507T>G	ENSP00000403207.1:p.Tyr169Ter
ENST00000449045.6:c.585T>G	ENSP00000392293.2:p.Tyr195Ter
ENST00000529905.5:c.894T>G	ENSP00000432053.1:p.Tyr298Ter
ENST00000530076.5:c.237T>G	ENSP00000434007.1:p.Tyr79Ter
ENST00000530704.5:c.*517T>G	ENSP00000431655.1:n.*517T>G
NM_000310.3:c.894T>G , LRG_690t1:c.894T>G	NP_000301.1:p.Tyr298Ter
NM_001142604.1:c.585T>G	NP_001136076.1:p.Tyr195Ter
XM_005271008.1:c.822T>G	XP_005271065.1:p.Tyr274Ter
NM_001363695.1:c.822T>G	NP_001350624.1:p.Tyr274Ter
NM_000310.4:c.894T>G MANE Select	NP_000301.1:p.Tyr298Ter
NM_001142604.2:c.585T>G	NP_001136076.1:p.Tyr195Ter
NM_001363695.2:c.822T>G	NP_001350624.1:p.Tyr274Ter