Canonical Allele Identifier: CA379472629

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636460G>A (hg19) ; chr11:g.6615229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615229G>A , CM000673.2:g.6615229G>A	GRCh38
NC_000011.9:g.6636460G>A , CM000673.1:g.6636460G>A	GRCh37
NC_000011.8:g.6593036G>A	NCBI36
NG_008653.1:g.9233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1253C>T	ENSP00000507321.1:p.Ser418Phe
ENST00000299427.12:c.1367C>T MANE Select	ENSP00000299427.6:p.Ser456Phe
ENST00000524611.2:n.227C>T
ENST00000524924.2:n.487C>T
ENST00000533371.6:c.638C>T	ENSP00000437066.1:p.Ser213Phe
ENST00000642892.1:c.638C>T	ENSP00000494165.1:p.Ser213Phe
ENST00000643342.1:c.440C>T
ENST00000643439.1:c.*1107C>T	ENSP00000495849.1:n.*1107C>T
ENST00000643479.1:n.1553C>T
ENST00000643516.1:c.876C>T
ENST00000644218.1:c.1178C>T	ENSP00000493574.1:p.Ser393Phe
ENST00000644683.1:c.*820C>T	ENSP00000494085.1:n.*820C>T
ENST00000644810.1:c.1088C>T	ENSP00000495895.1:p.Ser363Phe
ENST00000644831.1:n.1543C>T
ENST00000644933.1:c.*233C>T	ENSP00000496133.1:n.*233C>T
ENST00000645285.1:c.*233C>T	ENSP00000495058.1:n.*233C>T
ENST00000645331.1:n.2572C>T
ENST00000645620.1:c.638C>T	ENSP00000493657.1:p.Ser213Phe
ENST00000646691.1:n.1254C>T
ENST00000646777.1:n.1700C>T
ENST00000647016.1:n.1847C>T
ENST00000647152.1:c.638C>T	ENSP00000495893.1:p.Ser213Phe
ENST00000647209.1:c.*1236C>T	ENSP00000495558.1:n.*1236C>T
ENST00000647346.1:n.2387C>T
ENST00000299427.10:c.1367C>T	ENSP00000299427.6:p.Ser456Phe
ENST00000524611.1:n.245C>T
ENST00000532191.1:n.420C>T
ENST00000533371.5:c.638C>T	ENSP00000437066.1:p.Ser213Phe
ENST00000611494.4:c.1367C>T	ENSP00000484546.1:p.Ser456Phe
NM_000391.3:c.1367C>T	NP_000382.3:p.Ser456Phe
NM_000391.4:c.1367C>T MANE Select	NP_000382.3:p.Ser456Phe