Canonical Allele Identifier: CA379474147

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637602A>C (hg19) ; chr11:g.6616371A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616371A>C , CM000673.2:g.6616371A>C	GRCh38
NC_000011.9:g.6637602A>C , CM000673.1:g.6637602A>C	GRCh37
NC_000011.8:g.6594178A>C	NCBI36
NG_008653.1:g.8091T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.905T>G	ENSP00000507321.1:p.Val302Gly
ENST00000299427.12:c.1019T>G MANE Select	ENSP00000299427.6:p.Val340Gly
ENST00000436873.7:c.313-297T>G
ENST00000533371.6:c.290T>G	ENSP00000437066.1:p.Val97Gly
ENST00000642892.1:c.290T>G	ENSP00000494165.1:p.Val97Gly
ENST00000643342.1:c.109T>G
ENST00000643439.1:c.*759T>G	ENSP00000495849.1:n.*759T>G
ENST00000643479.1:n.1205T>G
ENST00000643516.1:c.528T>G
ENST00000644218.1:c.886+290T>G	ENSP00000493574.1:n.886+290T>G
ENST00000644683.1:c.*472T>G	ENSP00000494085.1:n.*472T>G
ENST00000644810.1:c.740T>G	ENSP00000495895.1:p.Val247Gly
ENST00000644831.1:n.1195T>G
ENST00000644933.1:c.290T>G	ENSP00000496133.1:p.Val97Gly
ENST00000645285.1:c.157+290T>G	ENSP00000495058.1:n.157+290T>G
ENST00000645331.1:n.1542T>G
ENST00000645620.1:c.290T>G	ENSP00000493657.1:p.Val97Gly
ENST00000646691.1:n.112T>G
ENST00000646777.1:n.1352T>G
ENST00000647016.1:n.1499T>G
ENST00000647152.1:c.290T>G	ENSP00000495893.1:p.Val97Gly
ENST00000647209.1:c.*888T>G	ENSP00000495558.1:n.*888T>G
ENST00000647346.1:n.2039T>G
ENST00000299427.10:c.1019T>G	ENSP00000299427.6:p.Val340Gly
ENST00000533371.5:c.290T>G	ENSP00000437066.1:p.Val97Gly
ENST00000611494.4:c.1019T>G	ENSP00000484546.1:p.Val340Gly
NM_000391.3:c.1019T>G	NP_000382.3:p.Val340Gly
NM_000391.4:c.1019T>G MANE Select	NP_000382.3:p.Val340Gly