Canonical Allele Identifier: CA379472902

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636696C>G (hg19) ; chr11:g.6615465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615465C>G , CM000673.2:g.6615465C>G	GRCh38
NC_000011.9:g.6636696C>G , CM000673.1:g.6636696C>G	GRCh37
NC_000011.8:g.6593272C>G	NCBI36
NG_008653.1:g.8997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1129G>C	ENSP00000507321.1:p.Val377Leu
ENST00000299427.12:c.1243G>C MANE Select	ENSP00000299427.6:p.Val415Leu
ENST00000436873.7:c.480G>C
ENST00000524924.2:n.363G>C
ENST00000533371.6:c.514G>C	ENSP00000437066.1:p.Val172Leu
ENST00000642892.1:c.514G>C	ENSP00000494165.1:p.Val172Leu
ENST00000643342.1:c.316G>C
ENST00000643439.1:c.*983G>C	ENSP00000495849.1:n.*983G>C
ENST00000643479.1:n.1429G>C
ENST00000643516.1:c.752G>C
ENST00000644218.1:c.1054G>C	ENSP00000493574.1:p.Val352Leu
ENST00000644683.1:c.*696G>C	ENSP00000494085.1:n.*696G>C
ENST00000644810.1:c.964G>C	ENSP00000495895.1:p.Val322Leu
ENST00000644831.1:n.1419G>C
ENST00000644933.1:c.*109G>C	ENSP00000496133.1:n.*109G>C
ENST00000645285.1:c.*109G>C	ENSP00000495058.1:n.*109G>C
ENST00000645331.1:n.2448G>C
ENST00000645620.1:c.514G>C	ENSP00000493657.1:p.Val172Leu
ENST00000646691.1:n.1018G>C
ENST00000646777.1:n.1576G>C
ENST00000647016.1:n.1723G>C
ENST00000647152.1:c.514G>C	ENSP00000495893.1:p.Val172Leu
ENST00000647209.1:c.*1112G>C	ENSP00000495558.1:n.*1112G>C
ENST00000647346.1:n.2263G>C
ENST00000299427.10:c.1243G>C	ENSP00000299427.6:p.Val415Leu
ENST00000524611.1:n.9G>C
ENST00000524924.1:n.198G>C
ENST00000532191.1:n.296G>C
ENST00000533371.5:c.514G>C	ENSP00000437066.1:p.Val172Leu
ENST00000611494.4:c.1243G>C	ENSP00000484546.1:p.Val415Leu
NM_000391.3:c.1243G>C	NP_000382.3:p.Val415Leu
NM_000391.4:c.1243G>C MANE Select	NP_000382.3:p.Val415Leu