Canonical Allele Identifier: CA379472693

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636491C>A (hg19) ; chr11:g.6615260C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615260C>A , CM000673.2:g.6615260C>A	GRCh38
NC_000011.9:g.6636491C>A , CM000673.1:g.6636491C>A	GRCh37
NC_000011.8:g.6593067C>A	NCBI36
NG_008653.1:g.9202G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1222G>T	ENSP00000507321.1:p.Gly408Cys
ENST00000299427.12:c.1336G>T MANE Select	ENSP00000299427.6:p.Gly446Cys
ENST00000524611.2:n.196G>T
ENST00000524924.2:n.456G>T
ENST00000533371.6:c.607G>T	ENSP00000437066.1:p.Gly203Cys
ENST00000642892.1:c.607G>T	ENSP00000494165.1:p.Gly203Cys
ENST00000643342.1:c.409G>T
ENST00000643439.1:c.*1076G>T	ENSP00000495849.1:n.*1076G>T
ENST00000643479.1:n.1522G>T
ENST00000643516.1:c.845G>T
ENST00000644218.1:c.1147G>T	ENSP00000493574.1:p.Gly383Cys
ENST00000644683.1:c.*789G>T	ENSP00000494085.1:n.*789G>T
ENST00000644810.1:c.1057G>T	ENSP00000495895.1:p.Gly353Cys
ENST00000644831.1:n.1512G>T
ENST00000644933.1:c.*202G>T	ENSP00000496133.1:n.*202G>T
ENST00000645285.1:c.*202G>T	ENSP00000495058.1:n.*202G>T
ENST00000645331.1:n.2541G>T
ENST00000645620.1:c.607G>T	ENSP00000493657.1:p.Gly203Cys
ENST00000646691.1:n.1223G>T
ENST00000646777.1:n.1669G>T
ENST00000647016.1:n.1816G>T
ENST00000647152.1:c.607G>T	ENSP00000495893.1:p.Gly203Cys
ENST00000647209.1:c.*1205G>T	ENSP00000495558.1:n.*1205G>T
ENST00000647346.1:n.2356G>T
ENST00000299427.10:c.1336G>T	ENSP00000299427.6:p.Gly446Cys
ENST00000524611.1:n.214G>T
ENST00000532191.1:n.389G>T
ENST00000533371.5:c.607G>T	ENSP00000437066.1:p.Gly203Cys
ENST00000611494.4:c.1336G>T	ENSP00000484546.1:p.Gly446Cys
NM_000391.3:c.1336G>T	NP_000382.3:p.Gly446Cys
NM_000391.4:c.1336G>T MANE Select	NP_000382.3:p.Gly446Cys