Canonical Allele Identifier: CA789542

Gene: PPT1

Linked Data

• ClinVar Variation Id: 875001
• ClinVar RCV Id: RCV001098458
• dbSNP Id: rs781759073
• ExAC: 1:40539760 A / G
• gnomAD v2: 1-40539760-A-G
• gnomAD v4: 1-40074088-A-G
• MyVariant Identifiers: chr1:g.40539760A>G (hg19) ; chr1:g.40074088A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.891T>C	ENSP00000394863.4:p.Tyr297=
ENST00000439754.6:c.822T>C	ENSP00000403207.2:p.Tyr274=
ENST00000449045.7:c.585T>C	ENSP00000392293.2:p.Tyr195=
ENST00000530076.6:c.237T>C	ENSP00000434007.1:p.Tyr79=
ENST00000530704.6:c.*517T>C	ENSP00000431655.1:n.*517T>C
ENST00000641083.1:c.984T>C
ENST00000641236.1:n.1131T>C
ENST00000641319.1:c.*104T>C	ENSP00000493128.1:n.*104T>C
ENST00000641381.1:c.316T>C
ENST00000641471.1:c.981T>C	ENSP00000493146.1:p.Tyr327=
ENST00000641691.1:c.*746T>C	ENSP00000492910.1:n.*746T>C
ENST00000641924.1:c.*323T>C	ENSP00000493063.1:n.*323T>C
ENST00000642050.2:c.894T>C MANE Select	ENSP00000493153.1:p.Tyr298=
ENST00000372775.2:n.291T>C
ENST00000433473.7:c.894T>C	ENSP00000394863.3:p.Tyr298=
ENST00000439754.5:c.507T>C	ENSP00000403207.1:p.Tyr169=
ENST00000449045.6:c.585T>C	ENSP00000392293.2:p.Tyr195=
ENST00000529905.5:c.894T>C	ENSP00000432053.1:p.Tyr298=
ENST00000530076.5:c.237T>C	ENSP00000434007.1:p.Tyr79=
ENST00000530704.5:c.*517T>C	ENSP00000431655.1:n.*517T>C
NM_000310.3:c.894T>C , LRG_690t1:c.894T>C	NP_000301.1:p.Tyr298=
NM_001142604.1:c.585T>C	NP_001136076.1:p.Tyr195=
XM_005271008.1:c.822T>C	XP_005271065.1:p.Tyr274=
NM_001363695.1:c.822T>C	NP_001350624.1:p.Tyr274=
NM_000310.4:c.894T>C MANE Select	NP_000301.1:p.Tyr298=
NM_001142604.2:c.585T>C	NP_001136076.1:p.Tyr195=
NM_001363695.2:c.822T>C	NP_001350624.1:p.Tyr274=