Canonical Allele Identifier: CA379472925

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2132665
• ClinVar RCV Id: RCV003056084
• MyVariant Identifiers: chr11:g.6636707C>A (hg19) ; chr11:g.6615476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615476C>A , CM000673.2:g.6615476C>A	GRCh38
NC_000011.9:g.6636707C>A , CM000673.1:g.6636707C>A	GRCh37
NC_000011.8:g.6593283C>A	NCBI36
NG_008653.1:g.8986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1118G>T	ENSP00000507321.1:p.Gly373Val
ENST00000299427.12:c.1232G>T MANE Select	ENSP00000299427.6:p.Gly411Val
ENST00000436873.7:c.469G>T
ENST00000524924.2:n.352G>T
ENST00000533371.6:c.503G>T	ENSP00000437066.1:p.Gly168Val
ENST00000642892.1:c.503G>T	ENSP00000494165.1:p.Gly168Val
ENST00000643342.1:c.305G>T
ENST00000643439.1:c.*972G>T	ENSP00000495849.1:n.*972G>T
ENST00000643479.1:n.1418G>T
ENST00000643516.1:c.741G>T
ENST00000644218.1:c.1043G>T	ENSP00000493574.1:p.Gly348Val
ENST00000644683.1:c.*685G>T	ENSP00000494085.1:n.*685G>T
ENST00000644810.1:c.953G>T	ENSP00000495895.1:p.Gly318Val
ENST00000644831.1:n.1408G>T
ENST00000644933.1:c.*98G>T	ENSP00000496133.1:n.*98G>T
ENST00000645285.1:c.*98G>T	ENSP00000495058.1:n.*98G>T
ENST00000645331.1:n.2437G>T
ENST00000645620.1:c.503G>T	ENSP00000493657.1:p.Gly168Val
ENST00000646691.1:n.1007G>T
ENST00000646777.1:n.1565G>T
ENST00000647016.1:n.1712G>T
ENST00000647152.1:c.503G>T	ENSP00000495893.1:p.Gly168Val
ENST00000647209.1:c.*1101G>T	ENSP00000495558.1:n.*1101G>T
ENST00000647346.1:n.2252G>T
ENST00000299427.10:c.1232G>T	ENSP00000299427.6:p.Gly411Val
ENST00000524924.1:n.187G>T
ENST00000532191.1:n.285G>T
ENST00000533371.5:c.503G>T	ENSP00000437066.1:p.Gly168Val
ENST00000611494.4:c.1232G>T	ENSP00000484546.1:p.Gly411Val
NM_000391.3:c.1232G>T	NP_000382.3:p.Gly411Val
NM_000391.4:c.1232G>T MANE Select	NP_000382.3:p.Gly411Val