Canonical Allele Identifier: CA292902

Gene: PPT1

Linked Data

• ClinVar Variation Id: 138793
• ClinVar RCV Id: RCV000127587 ; RCV000371863 ; RCV000582206 ; RCV002312593
• dbSNP Id: rs150454815
• ExAC: 1:40539730 G / T
• gnomAD v2: 1-40539730-G-T
• gnomAD v3: 1-40074058-G-T
• gnomAD v4: 1-40074058-G-T
• MyVariant Identifiers: chr1:g.40539730G>T (hg19) ; chr1:g.40074058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074058G>T , CM000663.2:g.40074058G>T	GRCh38
NC_000001.10:g.40539730G>T , CM000663.1:g.40539730G>T	GRCh37
NC_000001.9:g.40312317G>T	NCBI36
NG_009192.1:g.28413C>A , LRG_690:g.28413C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*3C>A	ENSP00000394863.4:n.*3C>A
ENST00000439754.6:c.*3C>A	ENSP00000403207.2:n.*3C>A
ENST00000449045.7:c.*3C>A	ENSP00000392293.2:n.*3C>A
ENST00000530076.6:c.*3C>A	ENSP00000434007.1:n.*3C>A
ENST00000530704.6:c.*547C>A	ENSP00000431655.1:n.*547C>A
ENST00000641083.1:c.1014C>A
ENST00000641236.1:n.1161C>A
ENST00000641319.1:c.*134C>A	ENSP00000493128.1:n.*134C>A
ENST00000641381.1:c.346C>A
ENST00000641471.1:c.*3C>A	ENSP00000493146.1:n.*3C>A
ENST00000641691.1:c.*776C>A	ENSP00000492910.1:n.*776C>A
ENST00000641924.1:c.*353C>A	ENSP00000493063.1:n.*353C>A
ENST00000642050.2:c.*3C>A MANE Select	ENSP00000493153.1:n.*3C>A
ENST00000372775.2:n.321C>A
ENST00000433473.7:c.*3C>A	ENSP00000394863.3:n.*3C>A
ENST00000439754.5:c.537C>A	ENSP00000403207.1:n.537C>A
ENST00000449045.6:c.*3C>A	ENSP00000392293.2:n.*3C>A
ENST00000529905.5:c.*3C>A	ENSP00000432053.1:n.*3C>A
ENST00000530076.5:c.*3C>A	ENSP00000434007.1:n.*3C>A
ENST00000530704.5:c.*547C>A	ENSP00000431655.1:n.*547C>A
NM_000310.3:c.*3C>A , LRG_690t1:c.*3C>A	NP_000301.1:n.*3C>A
NM_001142604.1:c.*3C>A	NP_001136076.1:n.*3C>A
XM_005271008.1:c.*3C>A	XP_005271065.1:n.*3C>A
NM_001363695.1:c.*3C>A	NP_001350624.1:n.*3C>A
NM_000310.4:c.*3C>A MANE Select	NP_000301.1:n.*3C>A
NM_001142604.2:c.*3C>A	NP_001136076.1:n.*3C>A
NM_001363695.2:c.*3C>A	NP_001350624.1:n.*3C>A