Canonical Allele Identifier: CA379476376

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638925C>G (hg19) ; chr11:g.6617694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617694C>G , CM000673.2:g.6617694C>G	GRCh38
NC_000011.9:g.6638925C>G , CM000673.1:g.6638925C>G	GRCh37
NC_000011.8:g.6595501C>G	NCBI36
NG_008653.1:g.6768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.198G>C	ENSP00000507321.1:p.Leu66Phe
ENST00000299427.12:c.312G>C MANE Select	ENSP00000299427.6:p.Leu104Phe
ENST00000428886.7:n.400G>C
ENST00000436873.7:c.116G>C
ENST00000524788.2:n.1324G>C
ENST00000524903.2:n.1440G>C
ENST00000528571.6:c.*52G>C	ENSP00000434647.1:n.*52G>C
ENST00000530040.2:n.341G>C
ENST00000533371.6:c.-418G>C	ENSP00000437066.1:n.-418G>C
ENST00000534644.6:n.313G>C
ENST00000642892.1:c.-365G>C	ENSP00000494165.1:n.-365G>C
ENST00000643439.1:c.*52G>C	ENSP00000495849.1:n.*52G>C
ENST00000643479.1:n.341G>C
ENST00000643516.1:c.199G>C
ENST00000644151.1:n.1604G>C
ENST00000644218.1:c.312G>C	ENSP00000493574.1:p.Leu104Phe
ENST00000644683.1:c.312G>C	ENSP00000494085.1:p.Leu104Phe
ENST00000644810.1:c.230-541G>C	ENSP00000495895.1:n.230-541G>C
ENST00000644831.1:n.341G>C
ENST00000644933.1:c.-418G>C	ENSP00000496133.1:n.-418G>C
ENST00000645020.1:n.1340G>C
ENST00000645285.1:c.-418G>C	ENSP00000495058.1:n.-418G>C
ENST00000645331.1:n.334G>C
ENST00000645620.1:c.-360G>C	ENSP00000493657.1:n.-360G>C
ENST00000646777.1:n.341G>C
ENST00000647016.1:n.645G>C
ENST00000647152.1:c.-418G>C	ENSP00000495893.1:n.-418G>C
ENST00000647209.1:c.*181G>C	ENSP00000495558.1:n.*181G>C
ENST00000647346.1:n.1332G>C
ENST00000299427.10:c.312G>C	ENSP00000299427.6:p.Leu104Phe
ENST00000428886.6:n.334G>C
ENST00000436873.6:c.312G>C	ENSP00000398136.2:p.Leu104Phe
ENST00000528571.5:c.*52G>C	ENSP00000434647.1:n.*52G>C
ENST00000530040.1:n.424G>C
ENST00000533371.5:c.-418G>C	ENSP00000437066.1:n.-418G>C
ENST00000534644.5:n.297G>C
ENST00000611494.4:c.312G>C	ENSP00000484546.1:p.Leu104Phe
NM_000391.3:c.312G>C	NP_000382.3:p.Leu104Phe
NM_000391.4:c.312G>C MANE Select	NP_000382.3:p.Leu104Phe