Canonical Allele Identifier: CA379472022

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635823C>A (hg19) ; chr11:g.6614592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614592C>A , CM000673.2:g.6614592C>A	GRCh38
NC_000011.9:g.6635823C>A , CM000673.1:g.6635823C>A	GRCh37
NC_000011.8:g.6592399C>A	NCBI36
NG_008653.1:g.9870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1532G>T	ENSP00000507321.1:p.Gly511Val
ENST00000299427.12:c.1646G>T MANE Select	ENSP00000299427.6:p.Gly549Val
ENST00000524611.2:n.685G>T
ENST00000533371.6:c.917G>T	ENSP00000437066.1:p.Gly306Val
ENST00000642892.1:c.917G>T	ENSP00000494165.1:p.Gly306Val
ENST00000643342.1:c.719G>T
ENST00000643439.1:c.*1386G>T	ENSP00000495849.1:n.*1386G>T
ENST00000643479.1:n.1832G>T
ENST00000643516.1:c.1155G>T
ENST00000644218.1:c.1457G>T	ENSP00000493574.1:p.Gly486Val
ENST00000644683.1:c.*1099G>T	ENSP00000494085.1:n.*1099G>T
ENST00000644810.1:c.1367G>T	ENSP00000495895.1:p.Gly456Val
ENST00000644831.1:n.1822G>T
ENST00000644933.1:c.*512G>T	ENSP00000496133.1:n.*512G>T
ENST00000645285.1:c.*512G>T	ENSP00000495058.1:n.*512G>T
ENST00000645331.1:n.2851G>T
ENST00000645620.1:c.917G>T	ENSP00000493657.1:p.Gly306Val
ENST00000646691.1:n.1533G>T
ENST00000646777.1:n.1979G>T
ENST00000647016.1:n.2126G>T
ENST00000647152.1:c.917G>T	ENSP00000495893.1:p.Gly306Val
ENST00000647209.1:c.*1515G>T	ENSP00000495558.1:n.*1515G>T
ENST00000647346.1:n.2666G>T
ENST00000299427.10:c.1646G>T	ENSP00000299427.6:p.Gly549Val
ENST00000533371.5:c.917G>T	ENSP00000437066.1:p.Gly306Val
ENST00000611494.4:c.1646G>T	ENSP00000484546.1:p.Gly549Val
NM_000391.3:c.1646G>T	NP_000382.3:p.Gly549Val
NM_000391.4:c.1646G>T MANE Select	NP_000382.3:p.Gly549Val