Canonical Allele Identifier: CA379475304

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638208G>A (hg19) ; chr11:g.6616977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616977G>A , CM000673.2:g.6616977G>A	GRCh38
NC_000011.9:g.6638208G>A , CM000673.1:g.6638208G>A	GRCh37
NC_000011.8:g.6594784G>A	NCBI36
NG_008653.1:g.7485C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.571C>T	ENSP00000507321.1:p.Gln191Ter
ENST00000299427.12:c.685C>T MANE Select	ENSP00000299427.6:p.Gln229Ter
ENST00000436873.7:c.312+324C>T
ENST00000524788.2:n.1844C>T
ENST00000524903.2:n.1960C>T
ENST00000528807.2:n.341C>T
ENST00000530040.2:n.479+382C>T
ENST00000533371.6:c.-45C>T	ENSP00000437066.1:n.-45C>T
ENST00000534644.6:n.633C>T
ENST00000642892.1:c.-45C>T	ENSP00000494165.1:n.-45C>T
ENST00000643439.1:c.*425C>T	ENSP00000495849.1:n.*425C>T
ENST00000643479.1:n.714C>T
ENST00000643516.1:c.395+324C>T
ENST00000644151.1:n.2124C>T
ENST00000644218.1:c.685C>T	ENSP00000493574.1:p.Gln229Ter
ENST00000644683.1:c.*138C>T	ENSP00000494085.1:n.*138C>T
ENST00000644810.1:c.406C>T	ENSP00000495895.1:p.Gln136Ter
ENST00000644831.1:n.861C>T
ENST00000644933.1:c.-45C>T	ENSP00000496133.1:n.-45C>T
ENST00000645020.1:n.1860C>T
ENST00000645285.1:c.-45C>T	ENSP00000495058.1:n.-45C>T
ENST00000645331.1:n.1051C>T
ENST00000645620.1:c.-45C>T	ENSP00000493657.1:n.-45C>T
ENST00000646777.1:n.861C>T
ENST00000647016.1:n.1165C>T
ENST00000647152.1:c.-45C>T	ENSP00000495893.1:n.-45C>T
ENST00000647209.1:c.*554C>T	ENSP00000495558.1:n.*554C>T
ENST00000647346.1:n.1705C>T
ENST00000299427.10:c.685C>T	ENSP00000299427.6:p.Gln229Ter
ENST00000436873.6:c.450+382C>T	ENSP00000398136.2:n.450+382C>T
ENST00000524788.1:n.385C>T
ENST00000528807.1:n.235C>T
ENST00000533371.5:c.-45C>T	ENSP00000437066.1:n.-45C>T
ENST00000611494.4:c.685C>T	ENSP00000484546.1:p.Gln229Ter
NM_000391.3:c.685C>T	NP_000382.3:p.Gln229Ter
NM_000391.4:c.685C>T MANE Select	NP_000382.3:p.Gln229Ter