Canonical Allele Identifier: CA263554

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56218
• ClinVar RCV Id: RCV000049629
• dbSNP Id: rs386833669
• gnomAD v3: 1-40074096-A-G
• gnomAD v4: 1-40074096-A-G
• MyVariant Identifiers: chr1:g.40539768A>G (hg19) ; chr1:g.40074096A>G (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074096A>G , CM000663.2:g.40074096A>G	GRCh38
NC_000001.10:g.40539768A>G , CM000663.1:g.40539768A>G	GRCh37
NC_000001.9:g.40312355A>G	NCBI36
NG_009192.1:g.28375T>C , LRG_690:g.28375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.883T>C	ENSP00000394863.4:p.Trp295Arg
ENST00000439754.6:c.814T>C	ENSP00000403207.2:p.Trp272Arg
ENST00000449045.7:c.577T>C	ENSP00000392293.2:p.Trp193Arg
ENST00000530076.6:c.229T>C	ENSP00000434007.1:p.Trp77Arg
ENST00000530704.6:c.*509T>C	ENSP00000431655.1:n.*509T>C
ENST00000641083.1:c.976T>C
ENST00000641236.1:n.1123T>C
ENST00000641319.1:c.*96T>C	ENSP00000493128.1:n.*96T>C
ENST00000641381.1:c.308T>C
ENST00000641471.1:c.973T>C	ENSP00000493146.1:p.Trp325Arg
ENST00000641691.1:c.*738T>C	ENSP00000492910.1:n.*738T>C
ENST00000641924.1:c.*315T>C	ENSP00000493063.1:n.*315T>C
ENST00000642050.2:c.886T>C MANE Select	ENSP00000493153.1:p.Trp296Arg
ENST00000372775.2:n.283T>C
ENST00000433473.7:c.886T>C	ENSP00000394863.3:p.Trp296Arg
ENST00000439754.5:c.499T>C	ENSP00000403207.1:p.Trp167Arg
ENST00000449045.6:c.577T>C	ENSP00000392293.2:p.Trp193Arg
ENST00000529905.5:c.886T>C	ENSP00000432053.1:p.Trp296Arg
ENST00000530076.5:c.229T>C	ENSP00000434007.1:p.Trp77Arg
ENST00000530704.5:c.*509T>C	ENSP00000431655.1:n.*509T>C
NM_000310.3:c.886T>C , LRG_690t1:c.886T>C	NP_000301.1:p.Trp296Arg
NM_001142604.1:c.577T>C	NP_001136076.1:p.Trp193Arg
XM_005271008.1:c.814T>C	XP_005271065.1:p.Trp272Arg
NM_001363695.1:c.814T>C	NP_001350624.1:p.Trp272Arg
NM_000310.4:c.886T>C MANE Select	NP_000301.1:p.Trp296Arg
NM_001142604.2:c.577T>C	NP_001136076.1:p.Trp193Arg
NM_001363695.2:c.814T>C	NP_001350624.1:p.Trp272Arg