Canonical Allele Identifier: CA379475649

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638379C>G (hg19) ; chr11:g.6617148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617148C>G , CM000673.2:g.6617148C>G	GRCh38
NC_000011.9:g.6638379C>G , CM000673.1:g.6638379C>G	GRCh37
NC_000011.8:g.6594955C>G	NCBI36
NG_008653.1:g.7314G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.400G>C	ENSP00000507321.1:p.Gly134Arg
ENST00000299427.12:c.514G>C MANE Select	ENSP00000299427.6:p.Gly172Arg
ENST00000428886.7:n.749G>C
ENST00000436873.7:c.312+153G>C
ENST00000524788.2:n.1673G>C
ENST00000524903.2:n.1789G>C
ENST00000528807.2:n.170G>C
ENST00000530040.2:n.479+211G>C
ENST00000533371.6:c.-216G>C	ENSP00000437066.1:n.-216G>C
ENST00000534644.6:n.462G>C
ENST00000642892.1:c.-216G>C	ENSP00000494165.1:n.-216G>C
ENST00000643439.1:c.*254G>C	ENSP00000495849.1:n.*254G>C
ENST00000643479.1:n.543G>C
ENST00000643516.1:c.395+153G>C
ENST00000644151.1:n.1953G>C
ENST00000644218.1:c.514G>C	ENSP00000493574.1:p.Gly172Arg
ENST00000644683.1:c.456G>C	ENSP00000494085.1:p.Gly152=
ENST00000644810.1:c.235G>C	ENSP00000495895.1:p.Gly79Arg
ENST00000644831.1:n.690G>C
ENST00000644933.1:c.-216G>C	ENSP00000496133.1:n.-216G>C
ENST00000645020.1:n.1689G>C
ENST00000645285.1:c.-216G>C	ENSP00000495058.1:n.-216G>C
ENST00000645331.1:n.880G>C
ENST00000645620.1:c.-216G>C	ENSP00000493657.1:n.-216G>C
ENST00000646777.1:n.690G>C
ENST00000647016.1:n.994G>C
ENST00000647152.1:c.-216G>C	ENSP00000495893.1:n.-216G>C
ENST00000647209.1:c.*383G>C	ENSP00000495558.1:n.*383G>C
ENST00000647346.1:n.1534G>C
ENST00000299427.10:c.514G>C	ENSP00000299427.6:p.Gly172Arg
ENST00000428886.6:n.683G>C
ENST00000436873.6:c.450+211G>C	ENSP00000398136.2:n.450+211G>C
ENST00000524788.1:n.214G>C
ENST00000528571.5:c.*254G>C	ENSP00000434647.1:n.*254G>C
ENST00000528807.1:n.64G>C
ENST00000533371.5:c.-216G>C	ENSP00000437066.1:n.-216G>C
ENST00000534644.5:n.499G>C
ENST00000611494.4:c.514G>C	ENSP00000484546.1:p.Gly172Arg
NM_000391.3:c.514G>C	NP_000382.3:p.Gly172Arg
NM_000391.4:c.514G>C MANE Select	NP_000382.3:p.Gly172Arg