Canonical Allele Identifier: CA379475324

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638217C>G (hg19) ; chr11:g.6616986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616986C>G , CM000673.2:g.6616986C>G	GRCh38
NC_000011.9:g.6638217C>G , CM000673.1:g.6638217C>G	GRCh37
NC_000011.8:g.6594793C>G	NCBI36
NG_008653.1:g.7476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.562G>C	ENSP00000507321.1:p.Ala188Pro
ENST00000299427.12:c.676G>C MANE Select	ENSP00000299427.6:p.Ala226Pro
ENST00000436873.7:c.312+315G>C
ENST00000524788.2:n.1835G>C
ENST00000524903.2:n.1951G>C
ENST00000528807.2:n.332G>C
ENST00000530040.2:n.479+373G>C
ENST00000533371.6:c.-54G>C	ENSP00000437066.1:n.-54G>C
ENST00000534644.6:n.624G>C
ENST00000642892.1:c.-54G>C	ENSP00000494165.1:n.-54G>C
ENST00000643439.1:c.*416G>C	ENSP00000495849.1:n.*416G>C
ENST00000643479.1:n.705G>C
ENST00000643516.1:c.395+315G>C
ENST00000644151.1:n.2115G>C
ENST00000644218.1:c.676G>C	ENSP00000493574.1:p.Ala226Pro
ENST00000644683.1:c.*129G>C	ENSP00000494085.1:n.*129G>C
ENST00000644810.1:c.397G>C	ENSP00000495895.1:p.Ala133Pro
ENST00000644831.1:n.852G>C
ENST00000644933.1:c.-54G>C	ENSP00000496133.1:n.-54G>C
ENST00000645020.1:n.1851G>C
ENST00000645285.1:c.-54G>C	ENSP00000495058.1:n.-54G>C
ENST00000645331.1:n.1042G>C
ENST00000645620.1:c.-54G>C	ENSP00000493657.1:n.-54G>C
ENST00000646777.1:n.852G>C
ENST00000647016.1:n.1156G>C
ENST00000647152.1:c.-54G>C	ENSP00000495893.1:n.-54G>C
ENST00000647209.1:c.*545G>C	ENSP00000495558.1:n.*545G>C
ENST00000647346.1:n.1696G>C
ENST00000299427.10:c.676G>C	ENSP00000299427.6:p.Ala226Pro
ENST00000436873.6:c.450+373G>C	ENSP00000398136.2:n.450+373G>C
ENST00000524788.1:n.376G>C
ENST00000528571.5:c.*416G>C	ENSP00000434647.1:n.*416G>C
ENST00000528807.1:n.226G>C
ENST00000533371.5:c.-54G>C	ENSP00000437066.1:n.-54G>C
ENST00000611494.4:c.676G>C	ENSP00000484546.1:p.Ala226Pro
NM_000391.3:c.676G>C	NP_000382.3:p.Ala226Pro
NM_000391.4:c.676G>C MANE Select	NP_000382.3:p.Ala226Pro