Canonical Allele Identifier: CA5858590

Gene: TPP1

Linked Data

• dbSNP Id: rs761034565
• ExAC: 11:6635781 G / T
• gnomAD v2: 11-6635781-G-T
• MyVariant Identifiers: chr11:g.6635781G>T (hg19) ; chr11:g.6614550G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1574C>A	ENSP00000507321.1:p.Pro525His
ENST00000299427.12:c.1688C>A MANE Select	ENSP00000299427.6:p.Pro563His
ENST00000524611.2:n.727C>A
ENST00000533371.6:c.959C>A	ENSP00000437066.1:p.Pro320His
ENST00000642892.1:c.959C>A	ENSP00000494165.1:p.Pro320His
ENST00000643342.1:c.761C>A
ENST00000643439.1:c.*1428C>A	ENSP00000495849.1:n.*1428C>A
ENST00000643479.1:n.1874C>A
ENST00000643516.1:c.1197C>A
ENST00000644218.1:c.1499C>A	ENSP00000493574.1:p.Pro500His
ENST00000644683.1:c.*1141C>A	ENSP00000494085.1:n.*1141C>A
ENST00000644810.1:c.1409C>A	ENSP00000495895.1:p.Pro470His
ENST00000644831.1:n.1864C>A
ENST00000644933.1:c.*554C>A	ENSP00000496133.1:n.*554C>A
ENST00000645285.1:c.*554C>A	ENSP00000495058.1:n.*554C>A
ENST00000645331.1:n.2893C>A
ENST00000645620.1:c.959C>A	ENSP00000493657.1:p.Pro320His
ENST00000646691.1:n.1575C>A
ENST00000646777.1:n.2021C>A
ENST00000647016.1:n.2168C>A
ENST00000647152.1:c.959C>A	ENSP00000495893.1:p.Pro320His
ENST00000647209.1:c.*1557C>A	ENSP00000495558.1:n.*1557C>A
ENST00000647346.1:n.2708C>A
ENST00000299427.10:c.1688C>A	ENSP00000299427.6:p.Pro563His
ENST00000533371.5:c.959C>A	ENSP00000437066.1:p.Pro320His
ENST00000611494.4:c.*16C>A	ENSP00000484546.1:n.*16C>A
NM_000391.3:c.1688C>A	NP_000382.3:p.Pro563His
NM_000391.4:c.1688C>A MANE Select	NP_000382.3:p.Pro563His