Canonical Allele Identifier: CA10581791

Gene: PPT1

Linked Data

• ClinVar Variation Id: 237631
• ClinVar RCV Id: RCV000228420
• dbSNP Id: rs878853929
• MyVariant Identifiers: chr1:g.40542513C>A (hg19) ; chr1:g.40076841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076841C>A , CM000663.2:g.40076841C>A	GRCh38
NC_000001.10:g.40542513C>A , CM000663.1:g.40542513C>A	GRCh37
NC_000001.9:g.40315100C>A	NCBI36
NG_009192.1:g.25630G>T , LRG_690:g.25630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.795+1G>T	ENSP00000394863.4:n.795+1G>T
ENST00000439754.6:c.726+1719G>T	ENSP00000403207.2:n.726+1719G>T
ENST00000449045.7:c.489+1G>T	ENSP00000392293.2:n.489+1G>T
ENST00000527311.7:c.567+1G>T	ENSP00000436695.3:n.567+1G>T
ENST00000530076.6:c.141+1G>T	ENSP00000434007.1:n.141+1G>T
ENST00000530704.6:c.*421+1G>T	ENSP00000431655.1:n.*421+1G>T
ENST00000641083.1:c.777G>T
ENST00000641236.1:n.1035+1G>T
ENST00000641319.1:c.798+1G>T	ENSP00000493128.1:n.798+1G>T
ENST00000641381.1:c.220+1G>T
ENST00000641471.1:c.885+1G>T	ENSP00000493146.1:n.885+1G>T
ENST00000641691.1:c.*650+1G>T	ENSP00000492910.1:n.*650+1G>T
ENST00000641924.1:c.*227+1G>T	ENSP00000493063.1:n.*227+1G>T
ENST00000642050.2:c.798+1G>T MANE Select	ENSP00000493153.1:n.798+1G>T
ENST00000372775.2:n.195+1G>T
ENST00000433473.7:c.798+1G>T	ENSP00000394863.3:n.798+1G>T
ENST00000439754.5:c.411+1719G>T	ENSP00000403207.1:n.411+1719G>T
ENST00000449045.6:c.489+1G>T	ENSP00000392293.2:n.489+1G>T
ENST00000527311.6:c.573+1G>T	ENSP00000436695.2:n.573+1G>T
ENST00000529905.5:c.798+1G>T	ENSP00000432053.1:n.798+1G>T
ENST00000530076.5:c.141+1G>T	ENSP00000434007.1:n.141+1G>T
ENST00000530704.5:c.*421+1G>T	ENSP00000431655.1:n.*421+1G>T
NM_000310.3:c.798+1G>T , LRG_690t1:c.798+1G>T	NP_000301.1:n.798+1G>T
NM_001142604.1:c.489+1G>T	NP_001136076.1:n.489+1G>T
XM_005271008.1:c.726+1719G>T	XP_005271065.1:n.726+1719G>T
NM_001363695.1:c.726+1719G>T	NP_001350624.1:n.726+1719G>T
NM_000310.4:c.798+1G>T MANE Select	NP_000301.1:n.798+1G>T
NM_001142604.2:c.489+1G>T	NP_001136076.1:n.489+1G>T
NM_001363695.2:c.726+1719G>T	NP_001350624.1:n.726+1719G>T