Canonical Allele Identifier: CA379474931

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637924G>T (hg19) ; chr11:g.6616693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616693G>T , CM000673.2:g.6616693G>T	GRCh38
NC_000011.9:g.6637924G>T , CM000673.1:g.6637924G>T	GRCh37
NC_000011.8:g.6594500G>T	NCBI36
NG_008653.1:g.7769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.740C>A	ENSP00000507321.1:p.Ala247Asp
ENST00000299427.12:c.854C>A MANE Select	ENSP00000299427.6:p.Ala285Asp
ENST00000436873.7:c.312+608C>A
ENST00000524788.2:n.2013C>A
ENST00000524903.2:n.2129C>A
ENST00000528807.2:n.510C>A
ENST00000530040.2:n.480-190C>A
ENST00000533371.6:c.125C>A	ENSP00000437066.1:p.Ala42Asp
ENST00000642892.1:c.125C>A	ENSP00000494165.1:p.Ala42Asp
ENST00000643439.1:c.*594C>A	ENSP00000495849.1:n.*594C>A
ENST00000643479.1:n.883C>A
ENST00000643516.1:c.396-190C>A
ENST00000644151.1:n.2293C>A
ENST00000644218.1:c.854C>A	ENSP00000493574.1:p.Ala285Asp
ENST00000644683.1:c.*307C>A	ENSP00000494085.1:n.*307C>A
ENST00000644810.1:c.575C>A	ENSP00000495895.1:p.Ala192Asp
ENST00000644831.1:n.1030C>A
ENST00000644933.1:c.125C>A	ENSP00000496133.1:p.Ala42Asp
ENST00000645020.1:n.2144C>A
ENST00000645285.1:c.125C>A	ENSP00000495058.1:p.Ala42Asp
ENST00000645331.1:n.1220C>A
ENST00000645620.1:c.125C>A	ENSP00000493657.1:p.Ala42Asp
ENST00000646777.1:n.1030C>A
ENST00000647016.1:n.1334C>A
ENST00000647152.1:c.125C>A	ENSP00000495893.1:p.Ala42Asp
ENST00000647209.1:c.*723C>A	ENSP00000495558.1:n.*723C>A
ENST00000647346.1:n.1874C>A
ENST00000299427.10:c.854C>A	ENSP00000299427.6:p.Ala285Asp
ENST00000436873.6:c.451-190C>A	ENSP00000398136.2:n.451-190C>A
ENST00000528807.1:n.404C>A
ENST00000533371.5:c.125C>A	ENSP00000437066.1:p.Ala42Asp
ENST00000611494.4:c.854C>A	ENSP00000484546.1:p.Ala285Asp
NM_000391.3:c.854C>A	NP_000382.3:p.Ala285Asp
NM_000391.4:c.854C>A MANE Select	NP_000382.3:p.Ala285Asp