Canonical Allele Identifier: CA379475666

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638532C>A (hg19) ; chr11:g.6617301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617301C>A , CM000673.2:g.6617301C>A	GRCh38
NC_000011.9:g.6638532C>A , CM000673.1:g.6638532C>A	GRCh37
NC_000011.8:g.6595108C>A	NCBI36
NG_008653.1:g.7161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394G>T	ENSP00000507321.1:p.Val132Leu
ENST00000299427.12:c.508G>T MANE Select	ENSP00000299427.6:p.Val170Leu
ENST00000428886.7:n.596G>T
ENST00000436873.7:c.312G>T
ENST00000524788.2:n.1520G>T
ENST00000524903.2:n.1636G>T
ENST00000528571.6:c.*248G>T	ENSP00000434647.1:n.*248G>T
ENST00000528807.2:n.164G>T
ENST00000530040.2:n.479+58G>T
ENST00000533371.6:c.-222G>T	ENSP00000437066.1:n.-222G>T
ENST00000534644.6:n.456+53G>T
ENST00000642892.1:c.-222+53G>T	ENSP00000494165.1:n.-222+53G>T
ENST00000643439.1:c.*248G>T	ENSP00000495849.1:n.*248G>T
ENST00000643479.1:n.537G>T
ENST00000643516.1:c.395G>T
ENST00000644151.1:n.1800G>T
ENST00000644218.1:c.508G>T	ENSP00000493574.1:p.Val170Leu
ENST00000644683.1:c.450+58G>T	ENSP00000494085.1:n.450+58G>T
ENST00000644810.1:c.230-148G>T	ENSP00000495895.1:n.230-148G>T
ENST00000644831.1:n.537G>T
ENST00000644933.1:c.-222G>T	ENSP00000496133.1:n.-222G>T
ENST00000645020.1:n.1536G>T
ENST00000645285.1:c.-222G>T	ENSP00000495058.1:n.-222G>T
ENST00000645331.1:n.727G>T
ENST00000645620.1:c.-222+58G>T	ENSP00000493657.1:n.-222+58G>T
ENST00000646777.1:n.537G>T
ENST00000647016.1:n.841G>T
ENST00000647152.1:c.-222G>T	ENSP00000495893.1:n.-222G>T
ENST00000647209.1:c.*377G>T	ENSP00000495558.1:n.*377G>T
ENST00000647346.1:n.1528G>T
ENST00000299427.10:c.508G>T	ENSP00000299427.6:p.Val170Leu
ENST00000428886.6:n.530G>T
ENST00000436873.6:c.450+58G>T	ENSP00000398136.2:n.450+58G>T
ENST00000524788.1:n.61G>T
ENST00000528571.5:c.*248G>T	ENSP00000434647.1:n.*248G>T
ENST00000533371.5:c.-222G>T	ENSP00000437066.1:n.-222G>T
ENST00000534644.5:n.493G>T
ENST00000611494.4:c.508G>T	ENSP00000484546.1:p.Val170Leu
NM_000391.3:c.508G>T	NP_000382.3:p.Val170Leu
NM_000391.4:c.508G>T MANE Select	NP_000382.3:p.Val170Leu