Canonical Allele Identifier: CA379473972

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616313A>G , CM000673.2:g.6616313A>G	GRCh38
NC_000011.9:g.6637544A>G , CM000673.1:g.6637544A>G	GRCh37
NC_000011.8:g.6594120A>G	NCBI36
NG_008653.1:g.8149T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1075+2T>C MANE Select	NP_000382.3:n.1075+2T>C
ENST00000299427.12:c.1075+2T>C MANE Select	ENSP00000299427.6:n.1075+2T>C
NM_000391.3:c.1075+2T>C	NP_000382.3:n.1075+2T>C
ENST00000299427.10:c.1075+2T>C	ENSP00000299427.6:n.1075+2T>C
ENST00000436873.7:c.313-239T>C
ENST00000533371.5:c.346+2T>C	ENSP00000437066.1:n.346+2T>C
ENST00000533371.6:c.346+2T>C	ENSP00000437066.1:n.346+2T>C
ENST00000611494.4:c.1075+2T>C	ENSP00000484546.1:n.1075+2T>C
ENST00000642892.1:c.346+2T>C	ENSP00000494165.1:n.346+2T>C
ENST00000643342.1:c.165+2T>C
ENST00000643439.1:c.*815+2T>C	ENSP00000495849.1:n.*815+2T>C
ENST00000643479.1:n.1261+2T>C
ENST00000643516.1:c.584+2T>C
ENST00000644218.1:c.887-239T>C	ENSP00000493574.1:n.887-239T>C
ENST00000644683.1:c.*528+2T>C	ENSP00000494085.1:n.*528+2T>C
ENST00000644810.1:c.796+2T>C	ENSP00000495895.1:n.796+2T>C
ENST00000644831.1:n.1251+2T>C
ENST00000644933.1:c.346+2T>C	ENSP00000496133.1:n.346+2T>C
ENST00000645285.1:c.158-239T>C	ENSP00000495058.1:n.158-239T>C
ENST00000645331.1:n.1600T>C
ENST00000645620.1:c.346+2T>C	ENSP00000493657.1:n.346+2T>C
ENST00000646691.1:n.170T>C
ENST00000646777.1:n.1408+2T>C
ENST00000647016.1:n.1555+2T>C
ENST00000647152.1:c.346+2T>C	ENSP00000495893.1:n.346+2T>C
ENST00000647209.1:c.*944+2T>C	ENSP00000495558.1:n.*944+2T>C
ENST00000647346.1:n.2095+2T>C
ENST00000682424.1:c.961+2T>C	ENSP00000507321.1:n.961+2T>C