Canonical Allele Identifier: CA263461

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56144
• ClinVar RCV Id: RCV000049554
• dbSNP Id: rs386833626
• MyVariant Identifiers: chr1:g.40562797C>A (hg19) ; chr1:g.40097125C>A (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097125C>A , CM000663.2:g.40097125C>A	GRCh38
NC_000001.10:g.40562797C>A , CM000663.1:g.40562797C>A	GRCh37
NC_000001.9:g.40335384C>A	NCBI36
NG_009192.1:g.5346G>T , LRG_690:g.5346G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.114G>T	ENSP00000361865.5:p.Trp38Cys
ENST00000433473.8:c.114G>T	ENSP00000394863.4:p.Trp38Cys
ENST00000439754.6:c.114G>T	ENSP00000403207.2:p.Trp38Cys
ENST00000449045.7:c.114G>T	ENSP00000392293.2:p.Trp38Cys
ENST00000526547.2:c.88G>T
ENST00000527311.7:c.114G>T	ENSP00000436695.3:p.Trp38Cys
ENST00000530704.6:c.114G>T	ENSP00000431655.1:p.Trp38Cys
ENST00000641083.1:c.92G>T
ENST00000641236.1:n.126G>T
ENST00000641319.1:c.114G>T	ENSP00000493128.1:p.Trp38Cys
ENST00000641471.1:c.114G>T	ENSP00000493146.1:p.Trp38Cys
ENST00000641548.1:c.114G>T	ENSP00000492984.1:p.Trp38Cys
ENST00000641691.1:c.114G>T	ENSP00000492910.1:p.Trp38Cys
ENST00000641924.1:c.114G>T	ENSP00000493063.1:p.Trp38Cys
ENST00000642050.2:c.114G>T MANE Select	ENSP00000493153.1:p.Trp38Cys
ENST00000372779.8:c.114G>T	ENSP00000361865.4:p.Trp38Cys
ENST00000433473.7:c.114G>T	ENSP00000394863.3:p.Trp38Cys
ENST00000449045.6:c.114G>T	ENSP00000392293.2:p.Trp38Cys
ENST00000527311.6:c.114G>T	ENSP00000436695.2:p.Trp38Cys
ENST00000529905.5:c.114G>T	ENSP00000432053.1:p.Trp38Cys
ENST00000530704.5:c.114G>T	ENSP00000431655.1:p.Trp38Cys
NM_000310.3:c.114G>T , LRG_690t1:c.114G>T	NP_000301.1:p.Trp38Cys
NM_001142604.1:c.114G>T	NP_001136076.1:p.Trp38Cys
XM_005271008.1:c.114G>T	XP_005271065.1:p.Trp38Cys
NM_001363695.1:c.114G>T	NP_001350624.1:p.Trp38Cys
NM_000310.4:c.114G>T MANE Select	NP_000301.1:p.Trp38Cys
NM_001142604.2:c.114G>T	NP_001136076.1:p.Trp38Cys
NM_001363695.2:c.114G>T	NP_001350624.1:p.Trp38Cys