Canonical Allele Identifier: CA472769425

Gene: TPP1

Linked Data

• dbSNP Id: rs1292154539
• MyVariant Identifiers: chr11:g.6635858G>A (hg19) ; chr11:g.6614627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614627G>A , CM000673.2:g.6614627G>A	GRCh38
NC_000011.9:g.6635858G>A , CM000673.1:g.6635858G>A	GRCh37
NC_000011.8:g.6592434G>A	NCBI36
NG_008653.1:g.9835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1497C>T	ENSP00000507321.1:p.Cys499=
ENST00000299427.12:c.1611C>T MANE Select	ENSP00000299427.6:p.Cys537=
ENST00000524611.2:n.650C>T
ENST00000524924.2:n.731C>T
ENST00000533371.6:c.882C>T	ENSP00000437066.1:p.Cys294=
ENST00000642892.1:c.882C>T	ENSP00000494165.1:p.Cys294=
ENST00000643342.1:c.684C>T
ENST00000643439.1:c.*1351C>T	ENSP00000495849.1:n.*1351C>T
ENST00000643479.1:n.1797C>T
ENST00000643516.1:c.1120C>T
ENST00000644218.1:c.1422C>T	ENSP00000493574.1:p.Cys474=
ENST00000644683.1:c.*1064C>T	ENSP00000494085.1:n.*1064C>T
ENST00000644810.1:c.1332C>T	ENSP00000495895.1:p.Cys444=
ENST00000644831.1:n.1787C>T
ENST00000644933.1:c.*477C>T	ENSP00000496133.1:n.*477C>T
ENST00000645285.1:c.*477C>T	ENSP00000495058.1:n.*477C>T
ENST00000645331.1:n.2816C>T
ENST00000645620.1:c.882C>T	ENSP00000493657.1:p.Cys294=
ENST00000646691.1:n.1498C>T
ENST00000646777.1:n.1944C>T
ENST00000647016.1:n.2091C>T
ENST00000647152.1:c.882C>T	ENSP00000495893.1:p.Cys294=
ENST00000647209.1:c.*1480C>T	ENSP00000495558.1:n.*1480C>T
ENST00000647346.1:n.2631C>T
ENST00000299427.10:c.1611C>T	ENSP00000299427.6:p.Cys537=
ENST00000533371.5:c.882C>T	ENSP00000437066.1:p.Cys294=
ENST00000611494.4:c.1611C>T	ENSP00000484546.1:p.Cys537=
NM_000391.3:c.1611C>T	NP_000382.3:p.Cys537=
NM_000391.4:c.1611C>T MANE Select	NP_000382.3:p.Cys537=