Canonical Allele Identifier: CA5858922

Gene: TPP1

Linked Data

• dbSNP Id: rs751270002
• ExAC: 11:6638452 C / T
• gnomAD v2: 11-6638452-C-T
• gnomAD v4: 11-6617221-C-T
• MyVariant Identifiers: chr11:g.6638452C>T (hg19) ; chr11:g.6617221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617221C>T , CM000673.2:g.6617221C>T	GRCh38
NC_000011.9:g.6638452C>T , CM000673.1:g.6638452C>T	GRCh37
NC_000011.8:g.6595028C>T	NCBI36
NG_008653.1:g.7241G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.395-68G>A	ENSP00000507321.1:n.395-68G>A
ENST00000299427.12:c.509-68G>A MANE Select	ENSP00000299427.6:n.509-68G>A
ENST00000428886.7:n.676G>A
ENST00000436873.7:c.312+80G>A
ENST00000524788.2:n.1600G>A
ENST00000524903.2:n.1716G>A
ENST00000528571.6:c.*328G>A	ENSP00000434647.1:n.*328G>A
ENST00000528807.2:n.165-68G>A
ENST00000530040.2:n.479+138G>A
ENST00000533371.6:c.-221-68G>A	ENSP00000437066.1:n.-221-68G>A
ENST00000534644.6:n.457-68G>A
ENST00000642892.1:c.-221-68G>A	ENSP00000494165.1:n.-221-68G>A
ENST00000643439.1:c.*249-68G>A	ENSP00000495849.1:n.*249-68G>A
ENST00000643479.1:n.538-68G>A
ENST00000643516.1:c.395+80G>A
ENST00000644151.1:n.1880G>A
ENST00000644218.1:c.509-68G>A	ENSP00000493574.1:n.509-68G>A
ENST00000644683.1:c.451-68G>A	ENSP00000494085.1:n.451-68G>A
ENST00000644810.1:c.230-68G>A	ENSP00000495895.1:n.230-68G>A
ENST00000644831.1:n.617G>A
ENST00000644933.1:c.-221-68G>A	ENSP00000496133.1:n.-221-68G>A
ENST00000645020.1:n.1616G>A
ENST00000645285.1:c.-221-68G>A	ENSP00000495058.1:n.-221-68G>A
ENST00000645331.1:n.807G>A
ENST00000645620.1:c.-221-68G>A	ENSP00000493657.1:n.-221-68G>A
ENST00000646777.1:n.617G>A
ENST00000647016.1:n.921G>A
ENST00000647152.1:c.-221-68G>A	ENSP00000495893.1:n.-221-68G>A
ENST00000647209.1:c.*378-68G>A	ENSP00000495558.1:n.*378-68G>A
ENST00000647346.1:n.1529-68G>A
ENST00000299427.10:c.509-68G>A	ENSP00000299427.6:n.509-68G>A
ENST00000428886.6:n.610G>A
ENST00000436873.6:c.450+138G>A	ENSP00000398136.2:n.450+138G>A
ENST00000524788.1:n.141G>A
ENST00000528571.5:c.*249-68G>A	ENSP00000434647.1:n.*249-68G>A
ENST00000533371.5:c.-221-68G>A	ENSP00000437066.1:n.-221-68G>A
ENST00000534644.5:n.494-68G>A
ENST00000611494.4:c.509-68G>A	ENSP00000484546.1:n.509-68G>A
NM_000391.3:c.509-68G>A	NP_000382.3:n.509-68G>A
NM_000391.4:c.509-68G>A MANE Select	NP_000382.3:n.509-68G>A