Canonical Allele Identifier: CA379472065

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635843C>A (hg19) ; chr11:g.6614612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614612C>A , CM000673.2:g.6614612C>A	GRCh38
NC_000011.9:g.6635843C>A , CM000673.1:g.6635843C>A	GRCh37
NC_000011.8:g.6592419C>A	NCBI36
NG_008653.1:g.9850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1512G>T	ENSP00000507321.1:p.Trp504Cys
ENST00000299427.12:c.1626G>T MANE Select	ENSP00000299427.6:p.Trp542Cys
ENST00000524611.2:n.665G>T
ENST00000524924.2:n.746G>T
ENST00000533371.6:c.897G>T	ENSP00000437066.1:p.Trp299Cys
ENST00000642892.1:c.897G>T	ENSP00000494165.1:p.Trp299Cys
ENST00000643342.1:c.699G>T
ENST00000643439.1:c.*1366G>T	ENSP00000495849.1:n.*1366G>T
ENST00000643479.1:n.1812G>T
ENST00000643516.1:c.1135G>T
ENST00000644218.1:c.1437G>T	ENSP00000493574.1:p.Trp479Cys
ENST00000644683.1:c.*1079G>T	ENSP00000494085.1:n.*1079G>T
ENST00000644810.1:c.1347G>T	ENSP00000495895.1:p.Trp449Cys
ENST00000644831.1:n.1802G>T
ENST00000644933.1:c.*492G>T	ENSP00000496133.1:n.*492G>T
ENST00000645285.1:c.*492G>T	ENSP00000495058.1:n.*492G>T
ENST00000645331.1:n.2831G>T
ENST00000645620.1:c.897G>T	ENSP00000493657.1:p.Trp299Cys
ENST00000646691.1:n.1513G>T
ENST00000646777.1:n.1959G>T
ENST00000647016.1:n.2106G>T
ENST00000647152.1:c.897G>T	ENSP00000495893.1:p.Trp299Cys
ENST00000647209.1:c.*1495G>T	ENSP00000495558.1:n.*1495G>T
ENST00000647346.1:n.2646G>T
ENST00000299427.10:c.1626G>T	ENSP00000299427.6:p.Trp542Cys
ENST00000533371.5:c.897G>T	ENSP00000437066.1:p.Trp299Cys
ENST00000611494.4:c.1626G>T	ENSP00000484546.1:p.Trp542Cys
NM_000391.3:c.1626G>T	NP_000382.3:p.Trp542Cys
NM_000391.4:c.1626G>T MANE Select	NP_000382.3:p.Trp542Cys