Canonical Allele Identifier: CA254584

Gene: PPT1

Linked Data

• ClinVar Variation Id: 8903
• ClinVar RCV Id: RCV000009454 ; RCV000188716 ; RCV002311509
• dbSNP Id: rs137852699
• ExAC: 1:40562882 A / T
• gnomAD v2: 1-40562882-A-T
• gnomAD v3: 1-40097210-A-T
• gnomAD v4: 1-40097210-A-T
• MyVariant Identifiers: chr1:g.40562882A>T (hg19) ; chr1:g.40097210A>T (hg38)
• PubMed: PMID:9425237 ; PMID:9733046 ; PMID:11073228 ; PMID:11440996 ; PMID:21704547 ; PMID:23539563 ; PMID:24997880

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097210A>T , CM000663.2:g.40097210A>T	GRCh38
NC_000001.10:g.40562882A>T , CM000663.1:g.40562882A>T	GRCh37
NC_000001.9:g.40335469A>T	NCBI36
NG_009192.1:g.5261T>A , LRG_690:g.5261T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.29T>A	ENSP00000361865.5:p.Leu10Ter
ENST00000433473.8:c.29T>A	ENSP00000394863.4:p.Leu10Ter
ENST00000439754.6:c.29T>A	ENSP00000403207.2:p.Leu10Ter
ENST00000449045.7:c.29T>A	ENSP00000392293.2:p.Leu10Ter
ENST00000526547.2:c.3T>A
ENST00000527311.7:c.29T>A	ENSP00000436695.3:p.Leu10Ter
ENST00000530704.6:c.29T>A	ENSP00000431655.1:p.Leu10Ter
ENST00000641083.1:c.7T>A
ENST00000641236.1:n.41T>A
ENST00000641319.1:c.29T>A	ENSP00000493128.1:p.Leu10Ter
ENST00000641471.1:c.29T>A	ENSP00000493146.1:p.Leu10Ter
ENST00000641548.1:c.29T>A	ENSP00000492984.1:p.Leu10Ter
ENST00000641691.1:c.29T>A	ENSP00000492910.1:p.Leu10Ter
ENST00000641924.1:c.29T>A	ENSP00000493063.1:p.Leu10Ter
ENST00000642050.2:c.29T>A MANE Select	ENSP00000493153.1:p.Leu10Ter
ENST00000372779.8:c.29T>A	ENSP00000361865.4:p.Leu10Ter
ENST00000433473.7:c.29T>A	ENSP00000394863.3:p.Leu10Ter
ENST00000449045.6:c.29T>A	ENSP00000392293.2:p.Leu10Ter
ENST00000527311.6:c.29T>A	ENSP00000436695.2:p.Leu10Ter
ENST00000529905.5:c.29T>A	ENSP00000432053.1:p.Leu10Ter
ENST00000530704.5:c.29T>A	ENSP00000431655.1:p.Leu10Ter
NM_000310.3:c.29T>A , LRG_690t1:c.29T>A	NP_000301.1:p.Leu10Ter
NM_001142604.1:c.29T>A	NP_001136076.1:p.Leu10Ter
XM_005271008.1:c.29T>A	XP_005271065.1:p.Leu10Ter
NM_001363695.1:c.29T>A	NP_001350624.1:p.Leu10Ter
NM_000310.4:c.29T>A MANE Select	NP_000301.1:p.Leu10Ter
NM_001142604.2:c.29T>A	NP_001136076.1:p.Leu10Ter
NM_001363695.2:c.29T>A	NP_001350624.1:p.Leu10Ter