Canonical Allele Identifier: CA379472937

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2414350
• ClinVar RCV Id: RCV003106683
• MyVariant Identifiers: chr11:g.6636713C>A (hg19) ; chr11:g.6615482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615482C>A , CM000673.2:g.6615482C>A	GRCh38
NC_000011.9:g.6636713C>A , CM000673.1:g.6636713C>A	GRCh37
NC_000011.8:g.6593289C>A	NCBI36
NG_008653.1:g.8980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1112G>T	ENSP00000507321.1:p.Gly371Val
ENST00000299427.12:c.1226G>T MANE Select	ENSP00000299427.6:p.Gly409Val
ENST00000436873.7:c.463G>T
ENST00000524924.2:n.346G>T
ENST00000533371.6:c.497G>T	ENSP00000437066.1:p.Gly166Val
ENST00000642892.1:c.497G>T	ENSP00000494165.1:p.Gly166Val
ENST00000643342.1:c.299G>T
ENST00000643439.1:c.*966G>T	ENSP00000495849.1:n.*966G>T
ENST00000643479.1:n.1412G>T
ENST00000643516.1:c.735G>T
ENST00000644218.1:c.1037G>T	ENSP00000493574.1:p.Gly346Val
ENST00000644683.1:c.*679G>T	ENSP00000494085.1:n.*679G>T
ENST00000644810.1:c.947G>T	ENSP00000495895.1:p.Gly316Val
ENST00000644831.1:n.1402G>T
ENST00000644933.1:c.*92G>T	ENSP00000496133.1:n.*92G>T
ENST00000645285.1:c.*92G>T	ENSP00000495058.1:n.*92G>T
ENST00000645331.1:n.2431G>T
ENST00000645620.1:c.497G>T	ENSP00000493657.1:p.Gly166Val
ENST00000646691.1:n.1001G>T
ENST00000646777.1:n.1559G>T
ENST00000647016.1:n.1706G>T
ENST00000647152.1:c.497G>T	ENSP00000495893.1:p.Gly166Val
ENST00000647209.1:c.*1095G>T	ENSP00000495558.1:n.*1095G>T
ENST00000647346.1:n.2246G>T
ENST00000299427.10:c.1226G>T	ENSP00000299427.6:p.Gly409Val
ENST00000524924.1:n.181G>T
ENST00000532191.1:n.279G>T
ENST00000533371.5:c.497G>T	ENSP00000437066.1:p.Gly166Val
ENST00000611494.4:c.1226G>T	ENSP00000484546.1:p.Gly409Val
NM_000391.3:c.1226G>T	NP_000382.3:p.Gly409Val
NM_000391.4:c.1226G>T MANE Select	NP_000382.3:p.Gly409Val