Canonical Allele Identifier: CA379472655

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636473C>A (hg19) ; chr11:g.6615242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615242C>A , CM000673.2:g.6615242C>A	GRCh38
NC_000011.9:g.6636473C>A , CM000673.1:g.6636473C>A	GRCh37
NC_000011.8:g.6593049C>A	NCBI36
NG_008653.1:g.9220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1240G>T	ENSP00000507321.1:p.Val414Leu
ENST00000299427.12:c.1354G>T MANE Select	ENSP00000299427.6:p.Val452Leu
ENST00000524611.2:n.214G>T
ENST00000524924.2:n.474G>T
ENST00000533371.6:c.625G>T	ENSP00000437066.1:p.Val209Leu
ENST00000642892.1:c.625G>T	ENSP00000494165.1:p.Val209Leu
ENST00000643342.1:c.427G>T
ENST00000643439.1:c.*1094G>T	ENSP00000495849.1:n.*1094G>T
ENST00000643479.1:n.1540G>T
ENST00000643516.1:c.863G>T
ENST00000644218.1:c.1165G>T	ENSP00000493574.1:p.Val389Leu
ENST00000644683.1:c.*807G>T	ENSP00000494085.1:n.*807G>T
ENST00000644810.1:c.1075G>T	ENSP00000495895.1:p.Val359Leu
ENST00000644831.1:n.1530G>T
ENST00000644933.1:c.*220G>T	ENSP00000496133.1:n.*220G>T
ENST00000645285.1:c.*220G>T	ENSP00000495058.1:n.*220G>T
ENST00000645331.1:n.2559G>T
ENST00000645620.1:c.625G>T	ENSP00000493657.1:p.Val209Leu
ENST00000646691.1:n.1241G>T
ENST00000646777.1:n.1687G>T
ENST00000647016.1:n.1834G>T
ENST00000647152.1:c.625G>T	ENSP00000495893.1:p.Val209Leu
ENST00000647209.1:c.*1223G>T	ENSP00000495558.1:n.*1223G>T
ENST00000647346.1:n.2374G>T
ENST00000299427.10:c.1354G>T	ENSP00000299427.6:p.Val452Leu
ENST00000524611.1:n.232G>T
ENST00000532191.1:n.407G>T
ENST00000533371.5:c.625G>T	ENSP00000437066.1:p.Val209Leu
ENST00000611494.4:c.1354G>T	ENSP00000484546.1:p.Val452Leu
NM_000391.3:c.1354G>T	NP_000382.3:p.Val452Leu
NM_000391.4:c.1354G>T MANE Select	NP_000382.3:p.Val452Leu