Canonical Allele Identifier: CA379475529

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638316T>G (hg19) ; chr11:g.6617085T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617085T>G , CM000673.2:g.6617085T>G	GRCh38
NC_000011.9:g.6638316T>G , CM000673.1:g.6638316T>G	GRCh37
NC_000011.8:g.6594892T>G	NCBI36
NG_008653.1:g.7377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.463A>C	ENSP00000507321.1:p.Thr155Pro
ENST00000299427.12:c.577A>C MANE Select	ENSP00000299427.6:p.Thr193Pro
ENST00000428886.7:n.812A>C
ENST00000436873.7:c.312+216A>C
ENST00000524788.2:n.1736A>C
ENST00000524903.2:n.1852A>C
ENST00000528807.2:n.233A>C
ENST00000530040.2:n.479+274A>C
ENST00000533371.6:c.-153A>C	ENSP00000437066.1:n.-153A>C
ENST00000534644.6:n.525A>C
ENST00000642892.1:c.-153A>C	ENSP00000494165.1:n.-153A>C
ENST00000643439.1:c.*317A>C	ENSP00000495849.1:n.*317A>C
ENST00000643479.1:n.606A>C
ENST00000643516.1:c.395+216A>C
ENST00000644151.1:n.2016A>C
ENST00000644218.1:c.577A>C	ENSP00000493574.1:p.Thr193Pro
ENST00000644683.1:c.*30A>C	ENSP00000494085.1:n.*30A>C
ENST00000644810.1:c.298A>C	ENSP00000495895.1:p.Thr100Pro
ENST00000644831.1:n.753A>C
ENST00000644933.1:c.-153A>C	ENSP00000496133.1:n.-153A>C
ENST00000645020.1:n.1752A>C
ENST00000645285.1:c.-153A>C	ENSP00000495058.1:n.-153A>C
ENST00000645331.1:n.943A>C
ENST00000645620.1:c.-153A>C	ENSP00000493657.1:n.-153A>C
ENST00000646777.1:n.753A>C
ENST00000647016.1:n.1057A>C
ENST00000647152.1:c.-153A>C	ENSP00000495893.1:n.-153A>C
ENST00000647209.1:c.*446A>C	ENSP00000495558.1:n.*446A>C
ENST00000647346.1:n.1597A>C
ENST00000299427.10:c.577A>C	ENSP00000299427.6:p.Thr193Pro
ENST00000428886.6:n.746A>C
ENST00000436873.6:c.450+274A>C	ENSP00000398136.2:n.450+274A>C
ENST00000524788.1:n.277A>C
ENST00000528571.5:c.*317A>C	ENSP00000434647.1:n.*317A>C
ENST00000528807.1:n.127A>C
ENST00000533371.5:c.-153A>C	ENSP00000437066.1:n.-153A>C
ENST00000534644.5:n.562A>C
ENST00000611494.4:c.577A>C	ENSP00000484546.1:p.Thr193Pro
NM_000391.3:c.577A>C	NP_000382.3:p.Thr193Pro
NM_000391.4:c.577A>C MANE Select	NP_000382.3:p.Thr193Pro