Canonical Allele Identifier: CA379476553

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617741-C-A
• MyVariant Identifiers: chr11:g.6638972C>A (hg19) ; chr11:g.6617741C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617741C>A , CM000673.2:g.6617741C>A	GRCh38
NC_000011.9:g.6638972C>A , CM000673.1:g.6638972C>A	GRCh37
NC_000011.8:g.6595548C>A	NCBI36
NG_008653.1:g.6721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.151G>T	ENSP00000507321.1:p.Val51Leu
ENST00000299427.12:c.265G>T MANE Select	ENSP00000299427.6:p.Val89Leu
ENST00000428886.7:n.353G>T
ENST00000436873.7:c.69G>T
ENST00000524788.2:n.1277G>T
ENST00000524903.2:n.1393G>T
ENST00000528571.6:c.*5G>T	ENSP00000434647.1:n.*5G>T
ENST00000530040.2:n.294G>T
ENST00000533371.6:c.-465G>T	ENSP00000437066.1:n.-465G>T
ENST00000534644.6:n.266G>T
ENST00000642892.1:c.-412G>T	ENSP00000494165.1:n.-412G>T
ENST00000643439.1:c.*5G>T	ENSP00000495849.1:n.*5G>T
ENST00000643479.1:n.294G>T
ENST00000643516.1:c.152G>T
ENST00000644151.1:n.1557G>T
ENST00000644218.1:c.265G>T	ENSP00000493574.1:p.Val89Leu
ENST00000644683.1:c.265G>T	ENSP00000494085.1:p.Val89Leu
ENST00000644810.1:c.230-588G>T	ENSP00000495895.1:n.230-588G>T
ENST00000644831.1:n.294G>T
ENST00000644933.1:c.-465G>T	ENSP00000496133.1:n.-465G>T
ENST00000645020.1:n.1293G>T
ENST00000645285.1:c.-465G>T	ENSP00000495058.1:n.-465G>T
ENST00000645331.1:n.287G>T
ENST00000645620.1:c.-407G>T	ENSP00000493657.1:n.-407G>T
ENST00000646777.1:n.294G>T
ENST00000647016.1:n.598G>T
ENST00000647152.1:c.-465G>T	ENSP00000495893.1:n.-465G>T
ENST00000647209.1:c.*134G>T	ENSP00000495558.1:n.*134G>T
ENST00000647346.1:n.1285G>T
ENST00000299427.10:c.265G>T	ENSP00000299427.6:p.Val89Leu
ENST00000428886.6:n.287G>T
ENST00000436873.6:c.265G>T	ENSP00000398136.2:p.Val89Leu
ENST00000528571.5:c.*5G>T	ENSP00000434647.1:n.*5G>T
ENST00000530040.1:n.377G>T
ENST00000533371.5:c.-465G>T	ENSP00000437066.1:n.-465G>T
ENST00000534644.5:n.250G>T
ENST00000611494.4:c.265G>T	ENSP00000484546.1:p.Val89Leu
NM_000391.3:c.265G>T	NP_000382.3:p.Val89Leu
NM_000391.4:c.265G>T MANE Select	NP_000382.3:p.Val89Leu