Canonical Allele Identifier: CA379472548

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636422G>A (hg19) ; chr11:g.6615191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615191G>A , CM000673.2:g.6615191G>A	GRCh38
NC_000011.9:g.6636422G>A , CM000673.1:g.6636422G>A	GRCh37
NC_000011.8:g.6592998G>A	NCBI36
NG_008653.1:g.9271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1291C>T	ENSP00000507321.1:p.Pro431Ser
ENST00000299427.12:c.1405C>T MANE Select	ENSP00000299427.6:p.Pro469Ser
ENST00000524611.2:n.265C>T
ENST00000524924.2:n.525C>T
ENST00000533371.6:c.676C>T	ENSP00000437066.1:p.Pro226Ser
ENST00000642892.1:c.676C>T	ENSP00000494165.1:p.Pro226Ser
ENST00000643342.1:c.478C>T
ENST00000643439.1:c.*1145C>T	ENSP00000495849.1:n.*1145C>T
ENST00000643479.1:n.1591C>T
ENST00000643516.1:c.914C>T
ENST00000644218.1:c.1216C>T	ENSP00000493574.1:p.Pro406Ser
ENST00000644683.1:c.*858C>T	ENSP00000494085.1:n.*858C>T
ENST00000644810.1:c.1126C>T	ENSP00000495895.1:p.Pro376Ser
ENST00000644831.1:n.1581C>T
ENST00000644933.1:c.*271C>T	ENSP00000496133.1:n.*271C>T
ENST00000645285.1:c.*271C>T	ENSP00000495058.1:n.*271C>T
ENST00000645331.1:n.2610C>T
ENST00000645620.1:c.676C>T	ENSP00000493657.1:p.Pro226Ser
ENST00000646691.1:n.1292C>T
ENST00000646777.1:n.1738C>T
ENST00000647016.1:n.1885C>T
ENST00000647152.1:c.676C>T	ENSP00000495893.1:p.Pro226Ser
ENST00000647209.1:c.*1274C>T	ENSP00000495558.1:n.*1274C>T
ENST00000647346.1:n.2425C>T
ENST00000299427.10:c.1405C>T	ENSP00000299427.6:p.Pro469Ser
ENST00000524611.1:n.283C>T
ENST00000533371.5:c.676C>T	ENSP00000437066.1:p.Pro226Ser
ENST00000611494.4:c.1405C>T	ENSP00000484546.1:p.Pro469Ser
NM_000391.3:c.1405C>T	NP_000382.3:p.Pro469Ser
NM_000391.4:c.1405C>T MANE Select	NP_000382.3:p.Pro469Ser