Canonical Allele Identifier: CA379473160

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636780T>G (hg19) ; chr11:g.6615549T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615549T>G , CM000673.2:g.6615549T>G	GRCh38
NC_000011.9:g.6636780T>G , CM000673.1:g.6636780T>G	GRCh37
NC_000011.8:g.6593356T>G	NCBI36
NG_008653.1:g.8913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1045A>C	ENSP00000507321.1:p.Thr349Pro
ENST00000299427.12:c.1159A>C MANE Select	ENSP00000299427.6:p.Thr387Pro
ENST00000436873.7:c.396A>C
ENST00000524924.2:n.279A>C
ENST00000533371.6:c.430A>C	ENSP00000437066.1:p.Thr144Pro
ENST00000642892.1:c.430A>C	ENSP00000494165.1:p.Thr144Pro
ENST00000643342.1:c.236-4A>C
ENST00000643439.1:c.*899A>C	ENSP00000495849.1:n.*899A>C
ENST00000643479.1:n.1345A>C
ENST00000643516.1:c.668A>C
ENST00000644218.1:c.970A>C	ENSP00000493574.1:p.Thr324Pro
ENST00000644683.1:c.*612A>C	ENSP00000494085.1:n.*612A>C
ENST00000644810.1:c.880A>C	ENSP00000495895.1:p.Thr294Pro
ENST00000644831.1:n.1335A>C
ENST00000644933.1:c.*25A>C	ENSP00000496133.1:n.*25A>C
ENST00000645285.1:c.*25A>C	ENSP00000495058.1:n.*25A>C
ENST00000645331.1:n.2364A>C
ENST00000645620.1:c.430A>C	ENSP00000493657.1:p.Thr144Pro
ENST00000646691.1:n.934A>C
ENST00000646777.1:n.1492A>C
ENST00000647016.1:n.1639A>C
ENST00000647152.1:c.430A>C	ENSP00000495893.1:p.Thr144Pro
ENST00000647209.1:c.*1028A>C	ENSP00000495558.1:n.*1028A>C
ENST00000647346.1:n.2179A>C
ENST00000299427.10:c.1159A>C	ENSP00000299427.6:p.Thr387Pro
ENST00000524924.1:n.114A>C
ENST00000532191.1:n.212A>C
ENST00000533371.5:c.430A>C	ENSP00000437066.1:p.Thr144Pro
ENST00000611494.4:c.1159A>C	ENSP00000484546.1:p.Thr387Pro
NM_000391.3:c.1159A>C	NP_000382.3:p.Thr387Pro
NM_000391.4:c.1159A>C MANE Select	NP_000382.3:p.Thr387Pro