Canonical Allele Identifier: CA339845553

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1491869
• ClinVar RCV Id: RCV002010181
• dbSNP Id: rs749414998
• gnomAD v4: 1-40074120-C-T
• MyVariant Identifiers: chr1:g.40539792C>T (hg19) ; chr1:g.40074120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074120C>T , CM000663.2:g.40074120C>T	GRCh38
NC_000001.10:g.40539792C>T , CM000663.1:g.40539792C>T	GRCh37
NC_000001.9:g.40312379C>T	NCBI36
NG_009192.1:g.28351G>A , LRG_690:g.28351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.859G>A	ENSP00000394863.4:p.Asp287Asn
ENST00000439754.6:c.790G>A	ENSP00000403207.2:p.Asp264Asn
ENST00000449045.7:c.553G>A	ENSP00000392293.2:p.Asp185Asn
ENST00000530076.6:c.205G>A	ENSP00000434007.1:p.Asp69Asn
ENST00000530704.6:c.*485G>A	ENSP00000431655.1:n.*485G>A
ENST00000641083.1:c.952G>A
ENST00000641236.1:n.1099G>A
ENST00000641319.1:c.*72G>A	ENSP00000493128.1:n.*72G>A
ENST00000641381.1:c.284G>A
ENST00000641471.1:c.949G>A	ENSP00000493146.1:p.Asp317Asn
ENST00000641691.1:c.*714G>A	ENSP00000492910.1:n.*714G>A
ENST00000641924.1:c.*291G>A	ENSP00000493063.1:n.*291G>A
ENST00000642050.2:c.862G>A MANE Select	ENSP00000493153.1:p.Asp288Asn
ENST00000372775.2:n.259G>A
ENST00000433473.7:c.862G>A	ENSP00000394863.3:p.Asp288Asn
ENST00000439754.5:c.475G>A	ENSP00000403207.1:p.Asp159Asn
ENST00000449045.6:c.553G>A	ENSP00000392293.2:p.Asp185Asn
ENST00000529905.5:c.862G>A	ENSP00000432053.1:p.Asp288Asn
ENST00000530076.5:c.205G>A	ENSP00000434007.1:p.Asp69Asn
ENST00000530704.5:c.*485G>A	ENSP00000431655.1:n.*485G>A
NM_000310.3:c.862G>A , LRG_690t1:c.862G>A	NP_000301.1:p.Asp288Asn
NM_001142604.1:c.553G>A	NP_001136076.1:p.Asp185Asn
XM_005271008.1:c.790G>A	XP_005271065.1:p.Asp264Asn
NM_001363695.1:c.790G>A	NP_001350624.1:p.Asp264Asn
NM_000310.4:c.862G>A MANE Select	NP_000301.1:p.Asp288Asn
NM_001142604.2:c.553G>A	NP_001136076.1:p.Asp185Asn
NM_001363695.2:c.790G>A	NP_001350624.1:p.Asp264Asn