Canonical Allele Identifier: CA217323938

Gene: TPP1

Linked Data

• dbSNP Id: rs869025274
• MyVariant Identifiers: chr11:g.6638584C>A (hg19) ; chr11:g.6617353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617353C>A , CM000673.2:g.6617353C>A	GRCh38
NC_000011.9:g.6638584C>A , CM000673.1:g.6638584C>A	GRCh37
NC_000011.8:g.6595160C>A	NCBI36
NG_008653.1:g.7109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.342G>T	ENSP00000507321.1:p.Arg114Ser
ENST00000299427.12:c.456G>T MANE Select	ENSP00000299427.6:p.Arg152Ser
ENST00000428886.7:n.544G>T
ENST00000436873.7:c.260G>T
ENST00000524788.2:n.1468G>T
ENST00000524903.2:n.1584G>T
ENST00000528571.6:c.*196G>T	ENSP00000434647.1:n.*196G>T
ENST00000528807.2:n.112G>T
ENST00000530040.2:n.479+6G>T
ENST00000533371.6:c.-274G>T	ENSP00000437066.1:n.-274G>T
ENST00000534644.6:n.456+1G>T
ENST00000642892.1:c.-222+1G>T	ENSP00000494165.1:n.-222+1G>T
ENST00000643439.1:c.*196G>T	ENSP00000495849.1:n.*196G>T
ENST00000643479.1:n.485G>T
ENST00000643516.1:c.343G>T
ENST00000644151.1:n.1748G>T
ENST00000644218.1:c.456G>T	ENSP00000493574.1:p.Arg152Ser
ENST00000644683.1:c.450+6G>T	ENSP00000494085.1:n.450+6G>T
ENST00000644810.1:c.230-200G>T	ENSP00000495895.1:n.230-200G>T
ENST00000644831.1:n.485G>T
ENST00000644933.1:c.-274G>T	ENSP00000496133.1:n.-274G>T
ENST00000645020.1:n.1484G>T
ENST00000645285.1:c.-274G>T	ENSP00000495058.1:n.-274G>T
ENST00000645331.1:n.675G>T
ENST00000645620.1:c.-222+6G>T	ENSP00000493657.1:n.-222+6G>T
ENST00000646777.1:n.485G>T
ENST00000647016.1:n.789G>T
ENST00000647152.1:c.-274G>T	ENSP00000495893.1:n.-274G>T
ENST00000647209.1:c.*325G>T	ENSP00000495558.1:n.*325G>T
ENST00000647346.1:n.1476G>T
ENST00000299427.10:c.456G>T	ENSP00000299427.6:p.Arg152Ser
ENST00000428886.6:n.478G>T
ENST00000436873.6:c.450+6G>T	ENSP00000398136.2:n.450+6G>T
ENST00000524788.1:n.9G>T
ENST00000528571.5:c.*196G>T	ENSP00000434647.1:n.*196G>T
ENST00000533371.5:c.-274G>T	ENSP00000437066.1:n.-274G>T
ENST00000534644.5:n.441G>T
ENST00000611494.4:c.456G>T	ENSP00000484546.1:p.Arg152Ser
NM_000391.3:c.456G>T	NP_000382.3:p.Arg152Ser
NM_000391.4:c.456G>T MANE Select	NP_000382.3:p.Arg152Ser