Canonical Allele Identifier: CA20999062

Gene: PPT1

Linked Data

• ClinVar Variation Id: 954949
• ClinVar RCV Id: RCV001227499
• dbSNP Id: rs374154128
• gnomAD v4: 1-40074104-G-A
• MyVariant Identifiers: chr1:g.40539776G>A (hg19) ; chr1:g.40074104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074104G>A , CM000663.2:g.40074104G>A	GRCh38
NC_000001.10:g.40539776G>A , CM000663.1:g.40539776G>A	GRCh37
NC_000001.9:g.40312363G>A	NCBI36
NG_009192.1:g.28367C>T , LRG_690:g.28367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.875C>T	ENSP00000394863.4:p.Ser292Phe
ENST00000439754.6:c.806C>T	ENSP00000403207.2:p.Ser269Phe
ENST00000449045.7:c.569C>T	ENSP00000392293.2:p.Ser190Phe
ENST00000530076.6:c.221C>T	ENSP00000434007.1:p.Ser74Phe
ENST00000530704.6:c.*501C>T	ENSP00000431655.1:n.*501C>T
ENST00000641083.1:c.968C>T
ENST00000641236.1:n.1115C>T
ENST00000641319.1:c.*88C>T	ENSP00000493128.1:n.*88C>T
ENST00000641381.1:c.300C>T
ENST00000641471.1:c.965C>T	ENSP00000493146.1:p.Ser322Phe
ENST00000641691.1:c.*730C>T	ENSP00000492910.1:n.*730C>T
ENST00000641924.1:c.*307C>T	ENSP00000493063.1:n.*307C>T
ENST00000642050.2:c.878C>T MANE Select	ENSP00000493153.1:p.Ser293Phe
ENST00000372775.2:n.275C>T
ENST00000433473.7:c.878C>T	ENSP00000394863.3:p.Ser293Phe
ENST00000439754.5:c.491C>T	ENSP00000403207.1:p.Ser164Phe
ENST00000449045.6:c.569C>T	ENSP00000392293.2:p.Ser190Phe
ENST00000529905.5:c.878C>T	ENSP00000432053.1:p.Ser293Phe
ENST00000530076.5:c.221C>T	ENSP00000434007.1:p.Ser74Phe
ENST00000530704.5:c.*501C>T	ENSP00000431655.1:n.*501C>T
NM_000310.3:c.878C>T , LRG_690t1:c.878C>T	NP_000301.1:p.Ser293Phe
NM_001142604.1:c.569C>T	NP_001136076.1:p.Ser190Phe
XM_005271008.1:c.806C>T	XP_005271065.1:p.Ser269Phe
NM_001363695.1:c.806C>T	NP_001350624.1:p.Ser269Phe
NM_000310.4:c.878C>T MANE Select	NP_000301.1:p.Ser293Phe
NM_001142604.2:c.569C>T	NP_001136076.1:p.Ser190Phe
NM_001363695.2:c.806C>T	NP_001350624.1:p.Ser269Phe