Canonical Allele Identifier: CA2790314351

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617255C>A , CM000673.2:g.6617255C>A	GRCh38
NC_000011.9:g.6638486C>A , CM000673.1:g.6638486C>A	GRCh37
NC_000011.8:g.6595062C>A	NCBI36
NG_008653.1:g.7207G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+46G>T	ENSP00000507321.1:n.394+46G>T
ENST00000299427.12:c.508+46G>T MANE Select	ENSP00000299427.6:n.508+46G>T
ENST00000428886.7:n.642G>T
ENST00000436873.7:c.312+46G>T
ENST00000524788.2:n.1566G>T
ENST00000524903.2:n.1682G>T
ENST00000528571.6:c.*294G>T	ENSP00000434647.1:n.*294G>T
ENST00000528807.2:n.164+46G>T
ENST00000530040.2:n.479+104G>T
ENST00000533371.6:c.-222+46G>T	ENSP00000437066.1:n.-222+46G>T
ENST00000534644.6:n.456+99G>T
ENST00000642892.1:c.-222+99G>T	ENSP00000494165.1:n.-222+99G>T
ENST00000643439.1:c.*248+46G>T	ENSP00000495849.1:n.*248+46G>T
ENST00000643479.1:n.537+46G>T
ENST00000643516.1:c.395+46G>T
ENST00000644151.1:n.1846G>T
ENST00000644218.1:c.508+46G>T	ENSP00000493574.1:n.508+46G>T
ENST00000644683.1:c.451-102G>T	ENSP00000494085.1:n.451-102G>T
ENST00000644810.1:c.230-102G>T	ENSP00000495895.1:n.230-102G>T
ENST00000644831.1:n.583G>T
ENST00000644933.1:c.-222+46G>T	ENSP00000496133.1:n.-222+46G>T
ENST00000645020.1:n.1582G>T
ENST00000645285.1:c.-222+46G>T	ENSP00000495058.1:n.-222+46G>T
ENST00000645331.1:n.773G>T
ENST00000645620.1:c.-221-102G>T	ENSP00000493657.1:n.-221-102G>T
ENST00000646777.1:n.583G>T
ENST00000647016.1:n.887G>T
ENST00000647152.1:c.-222+46G>T	ENSP00000495893.1:n.-222+46G>T
ENST00000647209.1:c.*377+46G>T	ENSP00000495558.1:n.*377+46G>T
ENST00000647346.1:n.1528+46G>T
ENST00000299427.10:c.508+46G>T	ENSP00000299427.6:n.508+46G>T
ENST00000428886.6:n.576G>T
ENST00000436873.6:c.450+104G>T	ENSP00000398136.2:n.450+104G>T
ENST00000524788.1:n.107G>T
ENST00000528571.5:c.*248+46G>T	ENSP00000434647.1:n.*248+46G>T
ENST00000533371.5:c.-222+46G>T	ENSP00000437066.1:n.-222+46G>T
ENST00000534644.5:n.493+46G>T
ENST00000611494.4:c.508+46G>T	ENSP00000484546.1:n.508+46G>T
NM_000391.3:c.508+46G>T	NP_000382.3:n.508+46G>T
NM_000391.4:c.508+46G>T MANE Select	NP_000382.3:n.508+46G>T