Canonical Allele Identifier: CA379471922

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635781G>A (hg19) ; chr11:g.6614550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614550G>A , CM000673.2:g.6614550G>A	GRCh38
NC_000011.9:g.6635781G>A , CM000673.1:g.6635781G>A	GRCh37
NC_000011.8:g.6592357G>A	NCBI36
NG_008653.1:g.9912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1574C>T	ENSP00000507321.1:p.Pro525Leu
ENST00000299427.12:c.1688C>T MANE Select	ENSP00000299427.6:p.Pro563Leu
ENST00000524611.2:n.727C>T
ENST00000533371.6:c.959C>T	ENSP00000437066.1:p.Pro320Leu
ENST00000642892.1:c.959C>T	ENSP00000494165.1:p.Pro320Leu
ENST00000643342.1:c.761C>T
ENST00000643439.1:c.*1428C>T	ENSP00000495849.1:n.*1428C>T
ENST00000643479.1:n.1874C>T
ENST00000643516.1:c.1197C>T
ENST00000644218.1:c.1499C>T	ENSP00000493574.1:p.Pro500Leu
ENST00000644683.1:c.*1141C>T	ENSP00000494085.1:n.*1141C>T
ENST00000644810.1:c.1409C>T	ENSP00000495895.1:p.Pro470Leu
ENST00000644831.1:n.1864C>T
ENST00000644933.1:c.*554C>T	ENSP00000496133.1:n.*554C>T
ENST00000645285.1:c.*554C>T	ENSP00000495058.1:n.*554C>T
ENST00000645331.1:n.2893C>T
ENST00000645620.1:c.959C>T	ENSP00000493657.1:p.Pro320Leu
ENST00000646691.1:n.1575C>T
ENST00000646777.1:n.2021C>T
ENST00000647016.1:n.2168C>T
ENST00000647152.1:c.959C>T	ENSP00000495893.1:p.Pro320Leu
ENST00000647209.1:c.*1557C>T	ENSP00000495558.1:n.*1557C>T
ENST00000647346.1:n.2708C>T
ENST00000299427.10:c.1688C>T	ENSP00000299427.6:p.Pro563Leu
ENST00000533371.5:c.959C>T	ENSP00000437066.1:p.Pro320Leu
ENST00000611494.4:c.*16C>T	ENSP00000484546.1:n.*16C>T
NM_000391.3:c.1688C>T	NP_000382.3:p.Pro563Leu
NM_000391.4:c.1688C>T MANE Select	NP_000382.3:p.Pro563Leu