Canonical Allele Identifier: CA789595

Gene: PPT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078652_40078655dup , CM000663.2:g.40078652_40078655dup	GRCh38
NC_000001.10:g.40544324_40544327dup , CM000663.1:g.40544324_40544327dup	GRCh37
NC_000001.9:g.40316911_40316914dup	NCBI36
NG_009192.1:g.23818_23821dup , LRG_690:g.23818_23821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.630_633dup	ENSP00000394863.4:p.Glu212GlnfsTer2
ENST00000439754.6:c.633_636dup	ENSP00000403207.2:p.Glu213GlnfsTer2
ENST00000449045.7:c.324_327dup	ENSP00000392293.2:p.Glu110GlnfsTer2
ENST00000527311.7:c.402_405dup	ENSP00000436695.3:p.Glu136GlnfsTer2
ENST00000530076.6:c.-25_-22dup	ENSP00000434007.1:n.-25_-22dup
ENST00000530704.6:c.*256_*259dup	ENSP00000431655.1:n.*256_*259dup
ENST00000641083.1:c.611_614dup
ENST00000641236.1:n.870_873dup
ENST00000641319.1:c.633_636dup	ENSP00000493128.1:p.Glu213GlnfsTer2
ENST00000641381.1:c.149-1740_149-1737dup
ENST00000641471.1:c.720_723dup	ENSP00000493146.1:p.Glu242GlnfsTer2
ENST00000641691.1:c.*485_*488dup	ENSP00000492910.1:n.*485_*488dup
ENST00000641924.1:c.*62_*65dup	ENSP00000493063.1:n.*62_*65dup
ENST00000642050.2:c.633_636dup MANE Select	ENSP00000493153.1:p.Glu213GlnfsTer2
ENST00000372775.2:n.30_33dup
ENST00000372779.8:c.720_723dup	ENSP00000361865.4:p.Glu242GlnfsTer2
ENST00000433473.7:c.633_636dup	ENSP00000394863.3:p.Glu213GlnfsTer2
ENST00000439754.5:c.318_321dup	ENSP00000403207.1:p.Glu108GlnfsTer2
ENST00000449045.6:c.324_327dup	ENSP00000392293.2:p.Glu110GlnfsTer2
ENST00000527311.6:c.408_411dup	ENSP00000436695.2:p.Glu138GlnfsTer2
ENST00000529905.5:c.633_636dup	ENSP00000432053.1:p.Glu213GlnfsTer2
ENST00000530076.5:c.-25_-22dup	ENSP00000434007.1:n.-25_-22dup
ENST00000530704.5:c.*256_*259dup	ENSP00000431655.1:n.*256_*259dup
NM_000310.3:c.633_636dup , LRG_690t1:c.633_636dup	NP_000301.1:p.Glu213GlnfsTer2
NM_001142604.1:c.324_327dup	NP_001136076.1:p.Glu110GlnfsTer2
XM_005271008.1:c.633_636dup	XP_005271065.1:p.Glu213GlnfsTer2
NM_001363695.1:c.633_636dup	NP_001350624.1:p.Glu213GlnfsTer2
NM_000310.4:c.633_636dup MANE Select	NP_000301.1:p.Glu213GlnfsTer2
NM_001142604.2:c.324_327dup	NP_001136076.1:p.Glu110GlnfsTer2
NM_001363695.2:c.633_636dup	NP_001350624.1:p.Glu213GlnfsTer2