Canonical Allele Identifier: CA789573

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076923A>C , CM000663.2:g.40076923A>C	GRCh38
NC_000001.10:g.40542595A>C , CM000663.1:g.40542595A>C	GRCh37
NC_000001.9:g.40315182A>C	NCBI36
NG_009192.1:g.25548T>G , LRG_690:g.25548T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.727-10T>G MANE Select	NP_000301.1:n.727-10T>G
ENST00000642050.2:c.727-10T>G MANE Select	ENSP00000493153.1:n.727-10T>G
NM_000310.3:c.727-10T>G , LRG_690t1:c.727-10T>G	NP_000301.1:n.727-10T>G
NM_001142604.1:c.418-10T>G	NP_001136076.1:n.418-10T>G
NM_001142604.2:c.418-10T>G	NP_001136076.1:n.418-10T>G
NM_001363695.1:c.726+1637T>G	NP_001350624.1:n.726+1637T>G
NM_001363695.2:c.726+1637T>G	NP_001350624.1:n.726+1637T>G
ENST00000372775.2:n.124-10T>G
ENST00000433473.7:c.727-10T>G	ENSP00000394863.3:n.727-10T>G
ENST00000433473.8:c.724-10T>G	ENSP00000394863.4:n.724-10T>G
ENST00000439754.5:c.411+1637T>G	ENSP00000403207.1:n.411+1637T>G
ENST00000439754.6:c.726+1637T>G	ENSP00000403207.2:n.726+1637T>G
ENST00000449045.6:c.418-10T>G	ENSP00000392293.2:n.418-10T>G
ENST00000449045.7:c.418-10T>G	ENSP00000392293.2:n.418-10T>G
ENST00000527311.6:c.502-10T>G	ENSP00000436695.2:n.502-10T>G
ENST00000527311.7:c.496-10T>G	ENSP00000436695.3:n.496-10T>G
ENST00000529905.5:c.727-10T>G	ENSP00000432053.1:n.727-10T>G
ENST00000530076.5:c.70-10T>G	ENSP00000434007.1:n.70-10T>G
ENST00000530076.6:c.70-10T>G	ENSP00000434007.1:n.70-10T>G
ENST00000530704.5:c.*350-10T>G	ENSP00000431655.1:n.*350-10T>G
ENST00000530704.6:c.*350-10T>G	ENSP00000431655.1:n.*350-10T>G
ENST00000641083.1:c.705-10T>G
ENST00000641236.1:n.964-10T>G
ENST00000641319.1:c.727-10T>G	ENSP00000493128.1:n.727-10T>G
ENST00000641381.1:c.149-10T>G
ENST00000641471.1:c.814-10T>G	ENSP00000493146.1:n.814-10T>G
ENST00000641691.1:c.*579-10T>G	ENSP00000492910.1:n.*579-10T>G
ENST00000641924.1:c.*156-10T>G	ENSP00000493063.1:n.*156-10T>G
XM_005271008.1:c.726+1637T>G	XP_005271065.1:n.726+1637T>G