Canonical Allele Identifier: CA2743276714

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091458_40091459insA , CM000663.2:g.40091458_40091459insA	GRCh38
NC_000001.10:g.40557130_40557131insA , CM000663.1:g.40557130_40557131insA	GRCh37
NC_000001.9:g.40329717_40329718insA	NCBI36
NG_009192.1:g.11012_11013insT , LRG_690:g.11012_11013insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-60_*199-59insT	ENSP00000361865.5:n.*199-60_*199-59insT
ENST00000433473.8:c.360-60_360-59insT	ENSP00000394863.4:n.360-60_360-59insT
ENST00000439754.6:c.363-60_363-59insT	ENSP00000403207.2:n.363-60_363-59insT
ENST00000449045.7:c.125-1947_125-1946insT	ENSP00000392293.2:n.125-1947_125-1946insT
ENST00000526547.2:c.643-60_643-59insT
ENST00000527311.7:c.235-60_235-59insT	ENSP00000436695.3:n.235-60_235-59insT
ENST00000530704.6:c.363-60_363-59insT	ENSP00000431655.1:n.363-60_363-59insT
ENST00000641083.1:c.341-60_341-59insT
ENST00000641236.1:n.600-60_600-59insT
ENST00000641319.1:c.363-60_363-59insT	ENSP00000493128.1:n.363-60_363-59insT
ENST00000641471.1:c.450-60_450-59insT	ENSP00000493146.1:n.450-60_450-59insT
ENST00000641548.1:c.*215-60_*215-59insT	ENSP00000492984.1:n.*215-60_*215-59insT
ENST00000641691.1:c.*215-60_*215-59insT	ENSP00000492910.1:n.*215-60_*215-59insT
ENST00000641924.1:c.124+5656_124+5657insT	ENSP00000493063.1:n.124+5656_124+5657insT
ENST00000642050.2:c.363-60_363-59insT MANE Select	ENSP00000493153.1:n.363-60_363-59insT
ENST00000372779.8:c.450-60_450-59insT	ENSP00000361865.4:n.450-60_450-59insT
ENST00000433473.7:c.363-60_363-59insT	ENSP00000394863.3:n.363-60_363-59insT
ENST00000439754.5:c.48-60_48-59insT	ENSP00000403207.1:n.48-60_48-59insT
ENST00000449045.6:c.125-1947_125-1946insT	ENSP00000392293.2:n.125-1947_125-1946insT
ENST00000526547.1:c.213-60_213-59insT	ENSP00000436481.1:n.213-60_213-59insT
ENST00000527311.6:c.138-60_138-59insT	ENSP00000436695.2:n.138-60_138-59insT
ENST00000529905.5:c.363-60_363-59insT	ENSP00000432053.1:n.363-60_363-59insT
ENST00000530704.5:c.363-60_363-59insT	ENSP00000431655.1:n.363-60_363-59insT
NM_000310.3:c.363-60_363-59insT , LRG_690t1:c.363-60_363-59insT	NP_000301.1:n.363-60_363-59insT
NM_001142604.1:c.125-1947_125-1946insT	NP_001136076.1:n.125-1947_125-1946insT
XM_005271008.1:c.363-60_363-59insT	XP_005271065.1:n.363-60_363-59insT
NM_001363695.1:c.363-60_363-59insT	NP_001350624.1:n.363-60_363-59insT
NM_000310.4:c.363-60_363-59insT MANE Select	NP_000301.1:n.363-60_363-59insT
NM_001142604.2:c.125-1947_125-1946insT	NP_001136076.1:n.125-1947_125-1946insT
NM_001363695.2:c.363-60_363-59insT	NP_001350624.1:n.363-60_363-59insT