Canonical Allele Identifier: CA379472948

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636717T>A (hg19) ; chr11:g.6615486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615486T>A , CM000673.2:g.6615486T>A	GRCh38
NC_000011.9:g.6636717T>A , CM000673.1:g.6636717T>A	GRCh37
NC_000011.8:g.6593293T>A	NCBI36
NG_008653.1:g.8976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1108A>T	ENSP00000507321.1:p.Ser370Cys
ENST00000299427.12:c.1222A>T MANE Select	ENSP00000299427.6:p.Ser408Cys
ENST00000436873.7:c.459A>T
ENST00000524924.2:n.342A>T
ENST00000533371.6:c.493A>T	ENSP00000437066.1:p.Ser165Cys
ENST00000642892.1:c.493A>T	ENSP00000494165.1:p.Ser165Cys
ENST00000643342.1:c.295A>T
ENST00000643439.1:c.*962A>T	ENSP00000495849.1:n.*962A>T
ENST00000643479.1:n.1408A>T
ENST00000643516.1:c.731A>T
ENST00000644218.1:c.1033A>T	ENSP00000493574.1:p.Ser345Cys
ENST00000644683.1:c.*675A>T	ENSP00000494085.1:n.*675A>T
ENST00000644810.1:c.943A>T	ENSP00000495895.1:p.Ser315Cys
ENST00000644831.1:n.1398A>T
ENST00000644933.1:c.*88A>T	ENSP00000496133.1:n.*88A>T
ENST00000645285.1:c.*88A>T	ENSP00000495058.1:n.*88A>T
ENST00000645331.1:n.2427A>T
ENST00000645620.1:c.493A>T	ENSP00000493657.1:p.Ser165Cys
ENST00000646691.1:n.997A>T
ENST00000646777.1:n.1555A>T
ENST00000647016.1:n.1702A>T
ENST00000647152.1:c.493A>T	ENSP00000495893.1:p.Ser165Cys
ENST00000647209.1:c.*1091A>T	ENSP00000495558.1:n.*1091A>T
ENST00000647346.1:n.2242A>T
ENST00000299427.10:c.1222A>T	ENSP00000299427.6:p.Ser408Cys
ENST00000524924.1:n.177A>T
ENST00000532191.1:n.275A>T
ENST00000533371.5:c.493A>T	ENSP00000437066.1:p.Ser165Cys
ENST00000611494.4:c.1222A>T	ENSP00000484546.1:p.Ser408Cys
NM_000391.3:c.1222A>T	NP_000382.3:p.Ser408Cys
NM_000391.4:c.1222A>T MANE Select	NP_000382.3:p.Ser408Cys