Canonical Allele Identifier: CA472922847

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638362G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617131G>T , CM000673.2:g.6617131G>T	GRCh38
NC_000011.9:g.6638362G>T , CM000673.1:g.6638362G>T	GRCh37
NC_000011.8:g.6594938G>T	NCBI36
NG_008653.1:g.7331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.417C>A	ENSP00000507321.1:p.Pro139=
ENST00000299427.12:c.531C>A MANE Select	ENSP00000299427.6:p.Pro177=
ENST00000428886.7:n.766C>A
ENST00000436873.7:c.312+170C>A
ENST00000524788.2:n.1690C>A
ENST00000524903.2:n.1806C>A
ENST00000528807.2:n.187C>A
ENST00000530040.2:n.479+228C>A
ENST00000533371.6:c.-199C>A	ENSP00000437066.1:n.-199C>A
ENST00000534644.6:n.479C>A
ENST00000642892.1:c.-199C>A	ENSP00000494165.1:n.-199C>A
ENST00000643439.1:c.*271C>A	ENSP00000495849.1:n.*271C>A
ENST00000643479.1:n.560C>A
ENST00000643516.1:c.395+170C>A
ENST00000644151.1:n.1970C>A
ENST00000644218.1:c.531C>A	ENSP00000493574.1:p.Pro177=
ENST00000644683.1:c.473C>A	ENSP00000494085.1:p.Pro158His
ENST00000644810.1:c.252C>A	ENSP00000495895.1:p.Pro84=
ENST00000644831.1:n.707C>A
ENST00000644933.1:c.-199C>A	ENSP00000496133.1:n.-199C>A
ENST00000645020.1:n.1706C>A
ENST00000645285.1:c.-199C>A	ENSP00000495058.1:n.-199C>A
ENST00000645331.1:n.897C>A
ENST00000645620.1:c.-199C>A	ENSP00000493657.1:n.-199C>A
ENST00000646777.1:n.707C>A
ENST00000647016.1:n.1011C>A
ENST00000647152.1:c.-199C>A	ENSP00000495893.1:n.-199C>A
ENST00000647209.1:c.*400C>A	ENSP00000495558.1:n.*400C>A
ENST00000647346.1:n.1551C>A
ENST00000299427.10:c.531C>A	ENSP00000299427.6:p.Pro177=
ENST00000428886.6:n.700C>A
ENST00000436873.6:c.450+228C>A	ENSP00000398136.2:n.450+228C>A
ENST00000524788.1:n.231C>A
ENST00000528571.5:c.*271C>A	ENSP00000434647.1:n.*271C>A
ENST00000528807.1:n.81C>A
ENST00000533371.5:c.-199C>A	ENSP00000437066.1:n.-199C>A
ENST00000534644.5:n.516C>A
ENST00000611494.4:c.531C>A	ENSP00000484546.1:p.Pro177=
NM_000391.3:c.531C>A	NP_000382.3:p.Pro177=
NM_000391.4:c.531C>A MANE Select	NP_000382.3:p.Pro177=