Canonical Allele Identifier: CA379475688

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638541C>T (hg19) ; chr11:g.6617310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617310C>T , CM000673.2:g.6617310C>T	GRCh38
NC_000011.9:g.6638541C>T , CM000673.1:g.6638541C>T	GRCh37
NC_000011.8:g.6595117C>T	NCBI36
NG_008653.1:g.7152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.385G>A	ENSP00000507321.1:p.Val129Met
ENST00000299427.12:c.499G>A MANE Select	ENSP00000299427.6:p.Val167Met
ENST00000428886.7:n.587G>A
ENST00000436873.7:c.303G>A
ENST00000524788.2:n.1511G>A
ENST00000524903.2:n.1627G>A
ENST00000528571.6:c.*239G>A	ENSP00000434647.1:n.*239G>A
ENST00000528807.2:n.155G>A
ENST00000530040.2:n.479+49G>A
ENST00000533371.6:c.-231G>A	ENSP00000437066.1:n.-231G>A
ENST00000534644.6:n.456+44G>A
ENST00000642892.1:c.-222+44G>A	ENSP00000494165.1:n.-222+44G>A
ENST00000643439.1:c.*239G>A	ENSP00000495849.1:n.*239G>A
ENST00000643479.1:n.528G>A
ENST00000643516.1:c.386G>A
ENST00000644151.1:n.1791G>A
ENST00000644218.1:c.499G>A	ENSP00000493574.1:p.Val167Met
ENST00000644683.1:c.450+49G>A	ENSP00000494085.1:n.450+49G>A
ENST00000644810.1:c.230-157G>A	ENSP00000495895.1:n.230-157G>A
ENST00000644831.1:n.528G>A
ENST00000644933.1:c.-231G>A	ENSP00000496133.1:n.-231G>A
ENST00000645020.1:n.1527G>A
ENST00000645285.1:c.-231G>A	ENSP00000495058.1:n.-231G>A
ENST00000645331.1:n.718G>A
ENST00000645620.1:c.-222+49G>A	ENSP00000493657.1:n.-222+49G>A
ENST00000646777.1:n.528G>A
ENST00000647016.1:n.832G>A
ENST00000647152.1:c.-231G>A	ENSP00000495893.1:n.-231G>A
ENST00000647209.1:c.*368G>A	ENSP00000495558.1:n.*368G>A
ENST00000647346.1:n.1519G>A
ENST00000299427.10:c.499G>A	ENSP00000299427.6:p.Val167Met
ENST00000428886.6:n.521G>A
ENST00000436873.6:c.450+49G>A	ENSP00000398136.2:n.450+49G>A
ENST00000524788.1:n.52G>A
ENST00000528571.5:c.*239G>A	ENSP00000434647.1:n.*239G>A
ENST00000533371.5:c.-231G>A	ENSP00000437066.1:n.-231G>A
ENST00000534644.5:n.484G>A
ENST00000611494.4:c.499G>A	ENSP00000484546.1:p.Val167Met
NM_000391.3:c.499G>A	NP_000382.3:p.Val167Met
NM_000391.4:c.499G>A MANE Select	NP_000382.3:p.Val167Met