Canonical Allele Identifier: CA339846346

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076840A>G , CM000663.2:g.40076840A>G	GRCh38
NC_000001.10:g.40542512A>G , CM000663.1:g.40542512A>G	GRCh37
NC_000001.9:g.40315099A>G	NCBI36
NG_009192.1:g.25631T>C , LRG_690:g.25631T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.798+2T>C MANE Select	NP_000301.1:n.798+2T>C
ENST00000642050.2:c.798+2T>C MANE Select	ENSP00000493153.1:n.798+2T>C
NM_000310.3:c.798+2T>C , LRG_690t1:c.798+2T>C	NP_000301.1:n.798+2T>C
NM_001142604.1:c.489+2T>C	NP_001136076.1:n.489+2T>C
NM_001142604.2:c.489+2T>C	NP_001136076.1:n.489+2T>C
NM_001363695.1:c.726+1720T>C	NP_001350624.1:n.726+1720T>C
NM_001363695.2:c.726+1720T>C	NP_001350624.1:n.726+1720T>C
ENST00000372775.2:n.195+2T>C
ENST00000433473.7:c.798+2T>C	ENSP00000394863.3:n.798+2T>C
ENST00000433473.8:c.795+2T>C	ENSP00000394863.4:n.795+2T>C
ENST00000439754.5:c.411+1720T>C	ENSP00000403207.1:n.411+1720T>C
ENST00000439754.6:c.726+1720T>C	ENSP00000403207.2:n.726+1720T>C
ENST00000449045.6:c.489+2T>C	ENSP00000392293.2:n.489+2T>C
ENST00000449045.7:c.489+2T>C	ENSP00000392293.2:n.489+2T>C
ENST00000527311.6:c.573+2T>C	ENSP00000436695.2:n.573+2T>C
ENST00000527311.7:c.567+2T>C	ENSP00000436695.3:n.567+2T>C
ENST00000529905.5:c.798+2T>C	ENSP00000432053.1:n.798+2T>C
ENST00000530076.5:c.141+2T>C	ENSP00000434007.1:n.141+2T>C
ENST00000530076.6:c.141+2T>C	ENSP00000434007.1:n.141+2T>C
ENST00000530704.5:c.*421+2T>C	ENSP00000431655.1:n.*421+2T>C
ENST00000530704.6:c.*421+2T>C	ENSP00000431655.1:n.*421+2T>C
ENST00000641083.1:c.778T>C
ENST00000641236.1:n.1035+2T>C
ENST00000641319.1:c.798+2T>C	ENSP00000493128.1:n.798+2T>C
ENST00000641381.1:c.220+2T>C
ENST00000641471.1:c.885+2T>C	ENSP00000493146.1:n.885+2T>C
ENST00000641691.1:c.*650+2T>C	ENSP00000492910.1:n.*650+2T>C
ENST00000641924.1:c.*227+2T>C	ENSP00000493063.1:n.*227+2T>C
XM_005271008.1:c.726+1720T>C	XP_005271065.1:n.726+1720T>C