Canonical Allele Identifier: CA379476259

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638897C>G (hg19) ; chr11:g.6617666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617666C>G , CM000673.2:g.6617666C>G	GRCh38
NC_000011.9:g.6638897C>G , CM000673.1:g.6638897C>G	GRCh37
NC_000011.8:g.6595473C>G	NCBI36
NG_008653.1:g.6796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.226G>C	ENSP00000507321.1:p.Val76Leu
ENST00000299427.12:c.340G>C MANE Select	ENSP00000299427.6:p.Val114Leu
ENST00000428886.7:n.428G>C
ENST00000436873.7:c.144G>C
ENST00000524788.2:n.1352G>C
ENST00000524903.2:n.1468G>C
ENST00000528571.6:c.*80G>C	ENSP00000434647.1:n.*80G>C
ENST00000530040.2:n.369G>C
ENST00000533371.6:c.-390G>C	ENSP00000437066.1:n.-390G>C
ENST00000534644.6:n.341G>C
ENST00000642892.1:c.-337G>C	ENSP00000494165.1:n.-337G>C
ENST00000643439.1:c.*80G>C	ENSP00000495849.1:n.*80G>C
ENST00000643479.1:n.369G>C
ENST00000643516.1:c.227G>C
ENST00000644151.1:n.1632G>C
ENST00000644218.1:c.340G>C	ENSP00000493574.1:p.Val114Leu
ENST00000644683.1:c.340G>C	ENSP00000494085.1:p.Val114Leu
ENST00000644810.1:c.230-513G>C	ENSP00000495895.1:n.230-513G>C
ENST00000644831.1:n.369G>C
ENST00000644933.1:c.-390G>C	ENSP00000496133.1:n.-390G>C
ENST00000645020.1:n.1368G>C
ENST00000645285.1:c.-390G>C	ENSP00000495058.1:n.-390G>C
ENST00000645331.1:n.362G>C
ENST00000645620.1:c.-332G>C	ENSP00000493657.1:n.-332G>C
ENST00000646777.1:n.369G>C
ENST00000647016.1:n.673G>C
ENST00000647152.1:c.-390G>C	ENSP00000495893.1:n.-390G>C
ENST00000647209.1:c.*209G>C	ENSP00000495558.1:n.*209G>C
ENST00000647346.1:n.1360G>C
ENST00000299427.10:c.340G>C	ENSP00000299427.6:p.Val114Leu
ENST00000428886.6:n.362G>C
ENST00000436873.6:c.340G>C	ENSP00000398136.2:p.Val114Leu
ENST00000528571.5:c.*80G>C	ENSP00000434647.1:n.*80G>C
ENST00000530040.1:n.452G>C
ENST00000533371.5:c.-390G>C	ENSP00000437066.1:n.-390G>C
ENST00000534644.5:n.325G>C
ENST00000611494.4:c.340G>C	ENSP00000484546.1:p.Val114Leu
NM_000391.3:c.340G>C	NP_000382.3:p.Val114Leu
NM_000391.4:c.340G>C MANE Select	NP_000382.3:p.Val114Leu