Canonical Allele Identifier: CA379475646

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638378C>G (hg19) ; chr11:g.6617147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617147C>G , CM000673.2:g.6617147C>G	GRCh38
NC_000011.9:g.6638378C>G , CM000673.1:g.6638378C>G	GRCh37
NC_000011.8:g.6594954C>G	NCBI36
NG_008653.1:g.7315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.401G>C	ENSP00000507321.1:p.Gly134Ala
ENST00000299427.12:c.515G>C MANE Select	ENSP00000299427.6:p.Gly172Ala
ENST00000428886.7:n.750G>C
ENST00000436873.7:c.312+154G>C
ENST00000524788.2:n.1674G>C
ENST00000524903.2:n.1790G>C
ENST00000528807.2:n.171G>C
ENST00000530040.2:n.479+212G>C
ENST00000533371.6:c.-215G>C	ENSP00000437066.1:n.-215G>C
ENST00000534644.6:n.463G>C
ENST00000642892.1:c.-215G>C	ENSP00000494165.1:n.-215G>C
ENST00000643439.1:c.*255G>C	ENSP00000495849.1:n.*255G>C
ENST00000643479.1:n.544G>C
ENST00000643516.1:c.395+154G>C
ENST00000644151.1:n.1954G>C
ENST00000644218.1:c.515G>C	ENSP00000493574.1:p.Gly172Ala
ENST00000644683.1:c.457G>C	ENSP00000494085.1:p.Asp153His
ENST00000644810.1:c.236G>C	ENSP00000495895.1:p.Gly79Ala
ENST00000644831.1:n.691G>C
ENST00000644933.1:c.-215G>C	ENSP00000496133.1:n.-215G>C
ENST00000645020.1:n.1690G>C
ENST00000645285.1:c.-215G>C	ENSP00000495058.1:n.-215G>C
ENST00000645331.1:n.881G>C
ENST00000645620.1:c.-215G>C	ENSP00000493657.1:n.-215G>C
ENST00000646777.1:n.691G>C
ENST00000647016.1:n.995G>C
ENST00000647152.1:c.-215G>C	ENSP00000495893.1:n.-215G>C
ENST00000647209.1:c.*384G>C	ENSP00000495558.1:n.*384G>C
ENST00000647346.1:n.1535G>C
ENST00000299427.10:c.515G>C	ENSP00000299427.6:p.Gly172Ala
ENST00000428886.6:n.684G>C
ENST00000436873.6:c.450+212G>C	ENSP00000398136.2:n.450+212G>C
ENST00000524788.1:n.215G>C
ENST00000528571.5:c.*255G>C	ENSP00000434647.1:n.*255G>C
ENST00000528807.1:n.65G>C
ENST00000533371.5:c.-215G>C	ENSP00000437066.1:n.-215G>C
ENST00000534644.5:n.500G>C
ENST00000611494.4:c.515G>C	ENSP00000484546.1:p.Gly172Ala
NM_000391.3:c.515G>C	NP_000382.3:p.Gly172Ala
NM_000391.4:c.515G>C MANE Select	NP_000382.3:p.Gly172Ala