Canonical Allele Identifier: CA379475997

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638629C>G (hg19) ; chr11:g.6617398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617398C>G , CM000673.2:g.6617398C>G	GRCh38
NC_000011.9:g.6638629C>G , CM000673.1:g.6638629C>G	GRCh37
NC_000011.8:g.6595205C>G	NCBI36
NG_008653.1:g.7064G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.297G>C	ENSP00000507321.1:p.Glu99Asp
ENST00000299427.12:c.411G>C MANE Select	ENSP00000299427.6:p.Glu137Asp
ENST00000428886.7:n.499G>C
ENST00000436873.7:c.215G>C
ENST00000524788.2:n.1423G>C
ENST00000524903.2:n.1539G>C
ENST00000528571.6:c.*151G>C	ENSP00000434647.1:n.*151G>C
ENST00000528807.2:n.67G>C
ENST00000530040.2:n.440G>C
ENST00000533371.6:c.-319G>C	ENSP00000437066.1:n.-319G>C
ENST00000534644.6:n.412G>C
ENST00000642892.1:c.-266G>C	ENSP00000494165.1:n.-266G>C
ENST00000643439.1:c.*151G>C	ENSP00000495849.1:n.*151G>C
ENST00000643479.1:n.440G>C
ENST00000643516.1:c.298G>C
ENST00000644151.1:n.1703G>C
ENST00000644218.1:c.411G>C	ENSP00000493574.1:p.Glu137Asp
ENST00000644683.1:c.411G>C	ENSP00000494085.1:p.Glu137Asp
ENST00000644810.1:c.230-245G>C	ENSP00000495895.1:n.230-245G>C
ENST00000644831.1:n.440G>C
ENST00000644933.1:c.-319G>C	ENSP00000496133.1:n.-319G>C
ENST00000645020.1:n.1439G>C
ENST00000645285.1:c.-319G>C	ENSP00000495058.1:n.-319G>C
ENST00000645331.1:n.630G>C
ENST00000645620.1:c.-261G>C	ENSP00000493657.1:n.-261G>C
ENST00000646777.1:n.440G>C
ENST00000647016.1:n.744G>C
ENST00000647152.1:c.-319G>C	ENSP00000495893.1:n.-319G>C
ENST00000647209.1:c.*280G>C	ENSP00000495558.1:n.*280G>C
ENST00000647346.1:n.1431G>C
ENST00000299427.10:c.411G>C	ENSP00000299427.6:p.Glu137Asp
ENST00000428886.6:n.433G>C
ENST00000436873.6:c.411G>C	ENSP00000398136.2:p.Glu137Asp
ENST00000528571.5:c.*151G>C	ENSP00000434647.1:n.*151G>C
ENST00000530040.1:n.523G>C
ENST00000533371.5:c.-319G>C	ENSP00000437066.1:n.-319G>C
ENST00000534644.5:n.396G>C
ENST00000611494.4:c.411G>C	ENSP00000484546.1:p.Glu137Asp
NM_000391.3:c.411G>C	NP_000382.3:p.Glu137Asp
NM_000391.4:c.411G>C MANE Select	NP_000382.3:p.Glu137Asp