Canonical Allele Identifier: CA379476138

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638863C>A (hg19) ; chr11:g.6617632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617632C>A , CM000673.2:g.6617632C>A	GRCh38
NC_000011.9:g.6638863C>A , CM000673.1:g.6638863C>A	GRCh37
NC_000011.8:g.6595439C>A	NCBI36
NG_008653.1:g.6830G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.260G>T	ENSP00000507321.1:p.Ser87Ile
ENST00000299427.12:c.374G>T MANE Select	ENSP00000299427.6:p.Ser125Ile
ENST00000428886.7:n.462G>T
ENST00000436873.7:c.178G>T
ENST00000524788.2:n.1386G>T
ENST00000524903.2:n.1502G>T
ENST00000528571.6:c.*114G>T	ENSP00000434647.1:n.*114G>T
ENST00000530040.2:n.403G>T
ENST00000533371.6:c.-356G>T	ENSP00000437066.1:n.-356G>T
ENST00000534644.6:n.375G>T
ENST00000642892.1:c.-303G>T	ENSP00000494165.1:n.-303G>T
ENST00000643439.1:c.*114G>T	ENSP00000495849.1:n.*114G>T
ENST00000643479.1:n.403G>T
ENST00000643516.1:c.261G>T
ENST00000644151.1:n.1666G>T
ENST00000644218.1:c.374G>T	ENSP00000493574.1:p.Ser125Ile
ENST00000644683.1:c.374G>T	ENSP00000494085.1:p.Ser125Ile
ENST00000644810.1:c.230-479G>T	ENSP00000495895.1:n.230-479G>T
ENST00000644831.1:n.403G>T
ENST00000644933.1:c.-356G>T	ENSP00000496133.1:n.-356G>T
ENST00000645020.1:n.1402G>T
ENST00000645285.1:c.-356G>T	ENSP00000495058.1:n.-356G>T
ENST00000645331.1:n.396G>T
ENST00000645620.1:c.-298G>T	ENSP00000493657.1:n.-298G>T
ENST00000646777.1:n.403G>T
ENST00000647016.1:n.707G>T
ENST00000647152.1:c.-356G>T	ENSP00000495893.1:n.-356G>T
ENST00000647209.1:c.*243G>T	ENSP00000495558.1:n.*243G>T
ENST00000647346.1:n.1394G>T
ENST00000299427.10:c.374G>T	ENSP00000299427.6:p.Ser125Ile
ENST00000428886.6:n.396G>T
ENST00000436873.6:c.374G>T	ENSP00000398136.2:p.Ser125Ile
ENST00000528571.5:c.*114G>T	ENSP00000434647.1:n.*114G>T
ENST00000530040.1:n.486G>T
ENST00000533371.5:c.-356G>T	ENSP00000437066.1:n.-356G>T
ENST00000534644.5:n.359G>T
ENST00000611494.4:c.374G>T	ENSP00000484546.1:p.Ser125Ile
NM_000391.3:c.374G>T	NP_000382.3:p.Ser125Ile
NM_000391.4:c.374G>T MANE Select	NP_000382.3:p.Ser125Ile