Canonical Allele Identifier: CA379472875

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636683G>A (hg19) ; chr11:g.6615452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615452G>A , CM000673.2:g.6615452G>A	GRCh38
NC_000011.9:g.6636683G>A , CM000673.1:g.6636683G>A	GRCh37
NC_000011.8:g.6593259G>A	NCBI36
NG_008653.1:g.9010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1142C>T	ENSP00000507321.1:p.Pro381Leu
ENST00000299427.12:c.1256C>T MANE Select	ENSP00000299427.6:p.Pro419Leu
ENST00000436873.7:c.493C>T
ENST00000524611.2:n.4C>T
ENST00000524924.2:n.376C>T
ENST00000533371.6:c.527C>T	ENSP00000437066.1:p.Pro176Leu
ENST00000642892.1:c.527C>T	ENSP00000494165.1:p.Pro176Leu
ENST00000643342.1:c.329C>T
ENST00000643439.1:c.*996C>T	ENSP00000495849.1:n.*996C>T
ENST00000643479.1:n.1442C>T
ENST00000643516.1:c.765C>T
ENST00000644218.1:c.1067C>T	ENSP00000493574.1:p.Pro356Leu
ENST00000644683.1:c.*709C>T	ENSP00000494085.1:n.*709C>T
ENST00000644810.1:c.977C>T	ENSP00000495895.1:p.Pro326Leu
ENST00000644831.1:n.1432C>T
ENST00000644933.1:c.*122C>T	ENSP00000496133.1:n.*122C>T
ENST00000645285.1:c.*122C>T	ENSP00000495058.1:n.*122C>T
ENST00000645331.1:n.2461C>T
ENST00000645620.1:c.527C>T	ENSP00000493657.1:p.Pro176Leu
ENST00000646691.1:n.1031C>T
ENST00000646777.1:n.1589C>T
ENST00000647016.1:n.1736C>T
ENST00000647152.1:c.527C>T	ENSP00000495893.1:p.Pro176Leu
ENST00000647209.1:c.*1125C>T	ENSP00000495558.1:n.*1125C>T
ENST00000647346.1:n.2276C>T
ENST00000299427.10:c.1256C>T	ENSP00000299427.6:p.Pro419Leu
ENST00000524611.1:n.22C>T
ENST00000524924.1:n.211C>T
ENST00000532191.1:n.309C>T
ENST00000533371.5:c.527C>T	ENSP00000437066.1:p.Pro176Leu
ENST00000611494.4:c.1256C>T	ENSP00000484546.1:p.Pro419Leu
NM_000391.3:c.1256C>T	NP_000382.3:p.Pro419Leu
NM_000391.4:c.1256C>T MANE Select	NP_000382.3:p.Pro419Leu