Canonical Allele Identifier: CA2743277226

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092592_40092593insACA , CM000663.2:g.40092592_40092593insACA	GRCh38
NC_000001.10:g.40558264_40558265insACA , CM000663.1:g.40558264_40558265insACA	GRCh37
NC_000001.9:g.40330851_40330852insACA	NCBI36
NG_009192.1:g.9878_9879insTGT , LRG_690:g.9878_9879insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-86_129-85insTGT	ENSP00000361865.5:n.129-86_129-85insTGT
ENST00000433473.8:c.125-89_125-88insTGT	ENSP00000394863.4:n.125-89_125-88insTGT
ENST00000439754.6:c.125-86_125-85insTGT	ENSP00000403207.2:n.125-86_125-85insTGT
ENST00000449045.7:c.125-3081_125-3080insTGT	ENSP00000392293.2:n.125-3081_125-3080insTGT
ENST00000526547.2:c.405-86_405-85insTGT
ENST00000527311.7:c.125-86_125-85insTGT	ENSP00000436695.3:n.125-86_125-85insTGT
ENST00000530704.6:c.125-86_125-85insTGT	ENSP00000431655.1:n.125-86_125-85insTGT
ENST00000641083.1:c.103-86_103-85insTGT
ENST00000641236.1:n.137-86_137-85insTGT
ENST00000641319.1:c.125-86_125-85insTGT	ENSP00000493128.1:n.125-86_125-85insTGT
ENST00000641471.1:c.212-86_212-85insTGT	ENSP00000493146.1:n.212-86_212-85insTGT
ENST00000641548.1:c.125-93_125-92insTGT	ENSP00000492984.1:n.125-93_125-92insTGT
ENST00000641691.1:c.125-93_125-92insTGT	ENSP00000492910.1:n.125-93_125-92insTGT
ENST00000641924.1:c.124+4522_124+4523insTGT	ENSP00000493063.1:n.124+4522_124+4523insTGT
ENST00000642050.2:c.125-86_125-85insTGT MANE Select	ENSP00000493153.1:n.125-86_125-85insTGT
ENST00000372779.8:c.212-86_212-85insTGT	ENSP00000361865.4:n.212-86_212-85insTGT
ENST00000433473.7:c.125-86_125-85insTGT	ENSP00000394863.3:n.125-86_125-85insTGT
ENST00000449045.6:c.125-3081_125-3080insTGT	ENSP00000392293.2:n.125-3081_125-3080insTGT
ENST00000526547.1:c.-26-86_-26-85insTGT	ENSP00000436481.1:n.-26-86_-26-85insTGT
ENST00000527311.6:c.125-536_125-535insTGT	ENSP00000436695.2:n.125-536_125-535insTGT
ENST00000529905.5:c.125-86_125-85insTGT	ENSP00000432053.1:n.125-86_125-85insTGT
ENST00000530704.5:c.125-86_125-85insTGT	ENSP00000431655.1:n.125-86_125-85insTGT
NM_000310.3:c.125-86_125-85insTGT , LRG_690t1:c.125-86_125-85insTGT	NP_000301.1:n.125-86_125-85insTGT
NM_001142604.1:c.125-3081_125-3080insTGT	NP_001136076.1:n.125-3081_125-3080insTGT
XM_005271008.1:c.125-86_125-85insTGT	XP_005271065.1:n.125-86_125-85insTGT
NM_001363695.1:c.125-86_125-85insTGT	NP_001350624.1:n.125-86_125-85insTGT
NM_000310.4:c.125-86_125-85insTGT MANE Select	NP_000301.1:n.125-86_125-85insTGT
NM_001142604.2:c.125-3081_125-3080insTGT	NP_001136076.1:n.125-3081_125-3080insTGT
NM_001363695.2:c.125-86_125-85insTGT	NP_001350624.1:n.125-86_125-85insTGT