Canonical Allele Identifier: CA789747

Gene: PPT1

Linked Data

• dbSNP Id: rs767100796
• ExAC: 1:40557751 T / TCTTATACTTTTAAAAA
• MyVariant Identifiers: chr1:g.40557751_40557752insCTTATACTTTTAAAAA (hg19) ; chr1:g.40092079_40092080insCTTATACTTTTAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092079_40092080insCTTATACTTTTAAAAA , CM000663.2:g.40092079_40092080insCTTATACTTTTAAAAA	GRCh38
NC_000001.10:g.40557751_40557752insCTTATACTTTTAAAAA , CM000663.1:g.40557751_40557752insCTTATACTTTTAAAAA	GRCh37
NC_000001.9:g.40330338_40330339insCTTATACTTTTAAAAA	NCBI36
NG_009192.1:g.10391_10392insTTTTTAAAAGTATAAG , LRG_690:g.10391_10392insTTTTTAAAAGTATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*163_*164insTTTTTAAAAGTATAAG	ENSP00000361865.5:n.*163_*164insTTTTTAAAAGTATAAG
ENST00000433473.8:c.324_325insTTTTTAAAAGTATAAG	ENSP00000394863.4:p.Asn109PhefsTer5
ENST00000439754.6:c.327_328insTTTTTAAAAGTATAAG	ENSP00000403207.2:p.Asn110PhefsTer5
ENST00000449045.7:c.125-2568_125-2567insTTTTTAAAAGTATAAG	ENSP00000392293.2:n.125-2568_125-2567insTTTTTAAAAGTATAAG
ENST00000526547.2:c.607_608insTTTTTAAAAGTATAAG
ENST00000527311.7:c.234+318_234+319insTTTTTAAAAGTATAAG	ENSP00000436695.3:n.234+318_234+319insTTTTTAAAAGTATAAG
ENST00000530704.6:c.327_328insTTTTTAAAAGTATAAG	ENSP00000431655.1:p.Asn110PhefsTer5
ENST00000641083.1:c.305_306insTTTTTAAAAGTATAAG
ENST00000641236.1:n.564_565insTTTTTAAAAGTATAAG
ENST00000641319.1:c.327_328insTTTTTAAAAGTATAAG	ENSP00000493128.1:p.Asn110PhefsTer5
ENST00000641471.1:c.414_415insTTTTTAAAAGTATAAG	ENSP00000493146.1:p.Asn139PhefsTer5
ENST00000641548.1:c.*179_*180insTTTTTAAAAGTATAAG	ENSP00000492984.1:n.*179_*180insTTTTTAAAAGTATAAG
ENST00000641691.1:c.*179_*180insTTTTTAAAAGTATAAG	ENSP00000492910.1:n.*179_*180insTTTTTAAAAGTATAAG
ENST00000641924.1:c.124+5035_124+5036insTTTTTAAAAGTATAAG	ENSP00000493063.1:n.124+5035_124+5036insTTTTTAAAAGTATAAG
ENST00000642050.2:c.327_328insTTTTTAAAAGTATAAG MANE Select	ENSP00000493153.1:p.Asn110PhefsTer5
ENST00000372779.8:c.414_415insTTTTTAAAAGTATAAG	ENSP00000361865.4:p.Asn139PhefsTer5
ENST00000433473.7:c.327_328insTTTTTAAAAGTATAAG	ENSP00000394863.3:p.Asn110PhefsTer5
ENST00000439754.5:c.12_13insTTTTTAAAAGTATAAG	ENSP00000403207.1:p.Asn5PhefsTer5
ENST00000449045.6:c.125-2568_125-2567insTTTTTAAAAGTATAAG	ENSP00000392293.2:n.125-2568_125-2567insTTTTTAAAAGTATAAG
ENST00000526547.1:c.177_178insTTTTTAAAAGTATAAG	ENSP00000436481.1:p.Asn60PhefsTer5
ENST00000527311.6:c.125-23_125-22insTTTTTAAAAGTATAAG	ENSP00000436695.2:n.125-23_125-22insTTTTTAAAAGTATAAG
ENST00000529905.5:c.327_328insTTTTTAAAAGTATAAG	ENSP00000432053.1:p.Asn110PhefsTer5
ENST00000530704.5:c.327_328insTTTTTAAAAGTATAAG	ENSP00000431655.1:p.Asn110PhefsTer5
NM_000310.3:c.327_328insTTTTTAAAAGTATAAG , LRG_690t1:c.327_328insTTTTTAAAAGTATAAG	NP_000301.1:p.Asn110PhefsTer5
NM_001142604.1:c.125-2568_125-2567insTTTTTAAAAGTATAAG	NP_001136076.1:n.125-2568_125-2567insTTTTTAAAAGTATAAG
XM_005271008.1:c.327_328insTTTTTAAAAGTATAAG	XP_005271065.1:p.Asn110PhefsTer5
NM_001363695.1:c.327_328insTTTTTAAAAGTATAAG	NP_001350624.1:p.Asn110PhefsTer5
NM_000310.4:c.327_328insTTTTTAAAAGTATAAG MANE Select	NP_000301.1:p.Asn110PhefsTer5
NM_001142604.2:c.125-2568_125-2567insTTTTTAAAAGTATAAG	NP_001136076.1:n.125-2568_125-2567insTTTTTAAAAGTATAAG
NM_001363695.2:c.327_328insTTTTTAAAAGTATAAG	NP_001350624.1:p.Asn110PhefsTer5