Canonical Allele Identifier: CA472922839

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638356T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617125T>G , CM000673.2:g.6617125T>G	GRCh38
NC_000011.9:g.6638356T>G , CM000673.1:g.6638356T>G	GRCh37
NC_000011.8:g.6594932T>G	NCBI36
NG_008653.1:g.7337A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.423A>C	ENSP00000507321.1:p.Thr141=
ENST00000299427.12:c.537A>C MANE Select	ENSP00000299427.6:p.Thr179=
ENST00000428886.7:n.772A>C
ENST00000436873.7:c.312+176A>C
ENST00000524788.2:n.1696A>C
ENST00000524903.2:n.1812A>C
ENST00000528807.2:n.193A>C
ENST00000530040.2:n.479+234A>C
ENST00000533371.6:c.-193A>C	ENSP00000437066.1:n.-193A>C
ENST00000534644.6:n.485A>C
ENST00000642892.1:c.-193A>C	ENSP00000494165.1:n.-193A>C
ENST00000643439.1:c.*277A>C	ENSP00000495849.1:n.*277A>C
ENST00000643479.1:n.566A>C
ENST00000643516.1:c.395+176A>C
ENST00000644151.1:n.1976A>C
ENST00000644218.1:c.537A>C	ENSP00000493574.1:p.Thr179=
ENST00000644683.1:c.479A>C	ENSP00000494085.1:p.His160Pro
ENST00000644810.1:c.258A>C	ENSP00000495895.1:p.Thr86=
ENST00000644831.1:n.713A>C
ENST00000644933.1:c.-193A>C	ENSP00000496133.1:n.-193A>C
ENST00000645020.1:n.1712A>C
ENST00000645285.1:c.-193A>C	ENSP00000495058.1:n.-193A>C
ENST00000645331.1:n.903A>C
ENST00000645620.1:c.-193A>C	ENSP00000493657.1:n.-193A>C
ENST00000646777.1:n.713A>C
ENST00000647016.1:n.1017A>C
ENST00000647152.1:c.-193A>C	ENSP00000495893.1:n.-193A>C
ENST00000647209.1:c.*406A>C	ENSP00000495558.1:n.*406A>C
ENST00000647346.1:n.1557A>C
ENST00000299427.10:c.537A>C	ENSP00000299427.6:p.Thr179=
ENST00000428886.6:n.706A>C
ENST00000436873.6:c.450+234A>C	ENSP00000398136.2:n.450+234A>C
ENST00000524788.1:n.237A>C
ENST00000528571.5:c.*277A>C	ENSP00000434647.1:n.*277A>C
ENST00000528807.1:n.87A>C
ENST00000533371.5:c.-193A>C	ENSP00000437066.1:n.-193A>C
ENST00000534644.5:n.522A>C
ENST00000611494.4:c.537A>C	ENSP00000484546.1:p.Thr179=
NM_000391.3:c.537A>C	NP_000382.3:p.Thr179=
NM_000391.4:c.537A>C MANE Select	NP_000382.3:p.Thr179=