Canonical Allele Identifier: CA379472947

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636716C>A (hg19) ; chr11:g.6615485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615485C>A , CM000673.2:g.6615485C>A	GRCh38
NC_000011.9:g.6636716C>A , CM000673.1:g.6636716C>A	GRCh37
NC_000011.8:g.6593292C>A	NCBI36
NG_008653.1:g.8977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1109G>T	ENSP00000507321.1:p.Ser370Ile
ENST00000299427.12:c.1223G>T MANE Select	ENSP00000299427.6:p.Ser408Ile
ENST00000436873.7:c.460G>T
ENST00000524924.2:n.343G>T
ENST00000533371.6:c.494G>T	ENSP00000437066.1:p.Ser165Ile
ENST00000642892.1:c.494G>T	ENSP00000494165.1:p.Ser165Ile
ENST00000643342.1:c.296G>T
ENST00000643439.1:c.*963G>T	ENSP00000495849.1:n.*963G>T
ENST00000643479.1:n.1409G>T
ENST00000643516.1:c.732G>T
ENST00000644218.1:c.1034G>T	ENSP00000493574.1:p.Ser345Ile
ENST00000644683.1:c.*676G>T	ENSP00000494085.1:n.*676G>T
ENST00000644810.1:c.944G>T	ENSP00000495895.1:p.Ser315Ile
ENST00000644831.1:n.1399G>T
ENST00000644933.1:c.*89G>T	ENSP00000496133.1:n.*89G>T
ENST00000645285.1:c.*89G>T	ENSP00000495058.1:n.*89G>T
ENST00000645331.1:n.2428G>T
ENST00000645620.1:c.494G>T	ENSP00000493657.1:p.Ser165Ile
ENST00000646691.1:n.998G>T
ENST00000646777.1:n.1556G>T
ENST00000647016.1:n.1703G>T
ENST00000647152.1:c.494G>T	ENSP00000495893.1:p.Ser165Ile
ENST00000647209.1:c.*1092G>T	ENSP00000495558.1:n.*1092G>T
ENST00000647346.1:n.2243G>T
ENST00000299427.10:c.1223G>T	ENSP00000299427.6:p.Ser408Ile
ENST00000524924.1:n.178G>T
ENST00000532191.1:n.276G>T
ENST00000533371.5:c.494G>T	ENSP00000437066.1:p.Ser165Ile
ENST00000611494.4:c.1223G>T	ENSP00000484546.1:p.Ser408Ile
NM_000391.3:c.1223G>T	NP_000382.3:p.Ser408Ile
NM_000391.4:c.1223G>T MANE Select	NP_000382.3:p.Ser408Ile