Canonical Allele Identifier: CA2743276794

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078737_40078738insACA , CM000663.2:g.40078737_40078738insACA	GRCh38
NC_000001.10:g.40544409_40544410insACA , CM000663.1:g.40544409_40544410insACA	GRCh37
NC_000001.9:g.40316996_40316997insACA	NCBI36
NG_009192.1:g.23733_23734insTGT , LRG_690:g.23733_23734insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-80_625-79insTGT	ENSP00000394863.4:n.625-80_625-79insTGT
ENST00000439754.6:c.628-80_628-79insTGT	ENSP00000403207.2:n.628-80_628-79insTGT
ENST00000449045.7:c.319-80_319-79insTGT	ENSP00000392293.2:n.319-80_319-79insTGT
ENST00000527311.7:c.397-80_397-79insTGT	ENSP00000436695.3:n.397-80_397-79insTGT
ENST00000530076.6:c.-30-80_-30-79insTGT	ENSP00000434007.1:n.-30-80_-30-79insTGT
ENST00000530704.6:c.*251-80_*251-79insTGT	ENSP00000431655.1:n.*251-80_*251-79insTGT
ENST00000641083.1:c.606-80_606-79insTGT
ENST00000641236.1:n.865-80_865-79insTGT
ENST00000641319.1:c.628-80_628-79insTGT	ENSP00000493128.1:n.628-80_628-79insTGT
ENST00000641381.1:c.149-1825_149-1824insTGT
ENST00000641471.1:c.715-80_715-79insTGT	ENSP00000493146.1:n.715-80_715-79insTGT
ENST00000641691.1:c.*480-80_*480-79insTGT	ENSP00000492910.1:n.*480-80_*480-79insTGT
ENST00000641924.1:c.*57-80_*57-79insTGT	ENSP00000493063.1:n.*57-80_*57-79insTGT
ENST00000642050.2:c.628-80_628-79insTGT MANE Select	ENSP00000493153.1:n.628-80_628-79insTGT
ENST00000372775.2:n.24+74_24+75insTGT
ENST00000372779.8:c.715-80_715-79insTGT	ENSP00000361865.4:n.715-80_715-79insTGT
ENST00000433473.7:c.628-80_628-79insTGT	ENSP00000394863.3:n.628-80_628-79insTGT
ENST00000439754.5:c.313-80_313-79insTGT	ENSP00000403207.1:n.313-80_313-79insTGT
ENST00000449045.6:c.319-80_319-79insTGT	ENSP00000392293.2:n.319-80_319-79insTGT
ENST00000527311.6:c.403-80_403-79insTGT	ENSP00000436695.2:n.403-80_403-79insTGT
ENST00000529905.5:c.628-80_628-79insTGT	ENSP00000432053.1:n.628-80_628-79insTGT
ENST00000530076.5:c.-30-80_-30-79insTGT	ENSP00000434007.1:n.-30-80_-30-79insTGT
ENST00000530704.5:c.*251-80_*251-79insTGT	ENSP00000431655.1:n.*251-80_*251-79insTGT
NM_000310.3:c.628-80_628-79insTGT , LRG_690t1:c.628-80_628-79insTGT	NP_000301.1:n.628-80_628-79insTGT
NM_001142604.1:c.319-80_319-79insTGT	NP_001136076.1:n.319-80_319-79insTGT
XM_005271008.1:c.628-80_628-79insTGT	XP_005271065.1:n.628-80_628-79insTGT
NM_001363695.1:c.628-80_628-79insTGT	NP_001350624.1:n.628-80_628-79insTGT
NM_000310.4:c.628-80_628-79insTGT MANE Select	NP_000301.1:n.628-80_628-79insTGT
NM_001142604.2:c.319-80_319-79insTGT	NP_001136076.1:n.319-80_319-79insTGT
NM_001363695.2:c.628-80_628-79insTGT	NP_001350624.1:n.628-80_628-79insTGT