Canonical Allele Identifier: CA472922923

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638865C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617634C>A , CM000673.2:g.6617634C>A	GRCh38
NC_000011.9:g.6638865C>A , CM000673.1:g.6638865C>A	GRCh37
NC_000011.8:g.6595441C>A	NCBI36
NG_008653.1:g.6828G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.258G>T	ENSP00000507321.1:p.Leu86=
ENST00000299427.12:c.372G>T MANE Select	ENSP00000299427.6:p.Leu124=
ENST00000428886.7:n.460G>T
ENST00000436873.7:c.176G>T
ENST00000524788.2:n.1384G>T
ENST00000524903.2:n.1500G>T
ENST00000528571.6:c.*112G>T	ENSP00000434647.1:n.*112G>T
ENST00000530040.2:n.401G>T
ENST00000533371.6:c.-358G>T	ENSP00000437066.1:n.-358G>T
ENST00000534644.6:n.373G>T
ENST00000642892.1:c.-305G>T	ENSP00000494165.1:n.-305G>T
ENST00000643439.1:c.*112G>T	ENSP00000495849.1:n.*112G>T
ENST00000643479.1:n.401G>T
ENST00000643516.1:c.259G>T
ENST00000644151.1:n.1664G>T
ENST00000644218.1:c.372G>T	ENSP00000493574.1:p.Leu124=
ENST00000644683.1:c.372G>T	ENSP00000494085.1:p.Leu124=
ENST00000644810.1:c.230-481G>T	ENSP00000495895.1:n.230-481G>T
ENST00000644831.1:n.401G>T
ENST00000644933.1:c.-358G>T	ENSP00000496133.1:n.-358G>T
ENST00000645020.1:n.1400G>T
ENST00000645285.1:c.-358G>T	ENSP00000495058.1:n.-358G>T
ENST00000645331.1:n.394G>T
ENST00000645620.1:c.-300G>T	ENSP00000493657.1:n.-300G>T
ENST00000646777.1:n.401G>T
ENST00000647016.1:n.705G>T
ENST00000647152.1:c.-358G>T	ENSP00000495893.1:n.-358G>T
ENST00000647209.1:c.*241G>T	ENSP00000495558.1:n.*241G>T
ENST00000647346.1:n.1392G>T
ENST00000299427.10:c.372G>T	ENSP00000299427.6:p.Leu124=
ENST00000428886.6:n.394G>T
ENST00000436873.6:c.372G>T	ENSP00000398136.2:p.Leu124=
ENST00000528571.5:c.*112G>T	ENSP00000434647.1:n.*112G>T
ENST00000530040.1:n.484G>T
ENST00000533371.5:c.-358G>T	ENSP00000437066.1:n.-358G>T
ENST00000534644.5:n.357G>T
ENST00000611494.4:c.372G>T	ENSP00000484546.1:p.Leu124=
NM_000391.3:c.372G>T	NP_000382.3:p.Leu124=
NM_000391.4:c.372G>T MANE Select	NP_000382.3:p.Leu124=