Canonical Allele Identifier: CA379475370

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638237C>G (hg19) ; chr11:g.6617006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617006C>G , CM000673.2:g.6617006C>G	GRCh38
NC_000011.9:g.6638237C>G , CM000673.1:g.6638237C>G	GRCh37
NC_000011.8:g.6594813C>G	NCBI36
NG_008653.1:g.7456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.542G>C	ENSP00000507321.1:p.Gly181Ala
ENST00000299427.12:c.656G>C MANE Select	ENSP00000299427.6:p.Gly219Ala
ENST00000436873.7:c.312+295G>C
ENST00000524788.2:n.1815G>C
ENST00000524903.2:n.1931G>C
ENST00000528807.2:n.312G>C
ENST00000530040.2:n.479+353G>C
ENST00000533371.6:c.-74G>C	ENSP00000437066.1:n.-74G>C
ENST00000534644.6:n.604G>C
ENST00000642892.1:c.-74G>C	ENSP00000494165.1:n.-74G>C
ENST00000643439.1:c.*396G>C	ENSP00000495849.1:n.*396G>C
ENST00000643479.1:n.685G>C
ENST00000643516.1:c.395+295G>C
ENST00000644151.1:n.2095G>C
ENST00000644218.1:c.656G>C	ENSP00000493574.1:p.Gly219Ala
ENST00000644683.1:c.*109G>C	ENSP00000494085.1:n.*109G>C
ENST00000644810.1:c.377G>C	ENSP00000495895.1:p.Gly126Ala
ENST00000644831.1:n.832G>C
ENST00000644933.1:c.-74G>C	ENSP00000496133.1:n.-74G>C
ENST00000645020.1:n.1831G>C
ENST00000645285.1:c.-74G>C	ENSP00000495058.1:n.-74G>C
ENST00000645331.1:n.1022G>C
ENST00000645620.1:c.-74G>C	ENSP00000493657.1:n.-74G>C
ENST00000646777.1:n.832G>C
ENST00000647016.1:n.1136G>C
ENST00000647152.1:c.-74G>C	ENSP00000495893.1:n.-74G>C
ENST00000647209.1:c.*525G>C	ENSP00000495558.1:n.*525G>C
ENST00000647346.1:n.1676G>C
ENST00000299427.10:c.656G>C	ENSP00000299427.6:p.Gly219Ala
ENST00000428886.6:n.825G>C
ENST00000436873.6:c.450+353G>C	ENSP00000398136.2:n.450+353G>C
ENST00000524788.1:n.356G>C
ENST00000528571.5:c.*396G>C	ENSP00000434647.1:n.*396G>C
ENST00000528807.1:n.206G>C
ENST00000533371.5:c.-74G>C	ENSP00000437066.1:n.-74G>C
ENST00000611494.4:c.656G>C	ENSP00000484546.1:p.Gly219Ala
NM_000391.3:c.656G>C	NP_000382.3:p.Gly219Ala
NM_000391.4:c.656G>C MANE Select	NP_000382.3:p.Gly219Ala