Canonical Allele Identifier: CA379472690

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636490C>G (hg19) ; chr11:g.6615259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615259C>G , CM000673.2:g.6615259C>G	GRCh38
NC_000011.9:g.6636490C>G , CM000673.1:g.6636490C>G	GRCh37
NC_000011.8:g.6593066C>G	NCBI36
NG_008653.1:g.9203G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1223G>C	ENSP00000507321.1:p.Gly408Ala
ENST00000299427.12:c.1337G>C MANE Select	ENSP00000299427.6:p.Gly446Ala
ENST00000524611.2:n.197G>C
ENST00000524924.2:n.457G>C
ENST00000533371.6:c.608G>C	ENSP00000437066.1:p.Gly203Ala
ENST00000642892.1:c.608G>C	ENSP00000494165.1:p.Gly203Ala
ENST00000643342.1:c.410G>C
ENST00000643439.1:c.*1077G>C	ENSP00000495849.1:n.*1077G>C
ENST00000643479.1:n.1523G>C
ENST00000643516.1:c.846G>C
ENST00000644218.1:c.1148G>C	ENSP00000493574.1:p.Gly383Ala
ENST00000644683.1:c.*790G>C	ENSP00000494085.1:n.*790G>C
ENST00000644810.1:c.1058G>C	ENSP00000495895.1:p.Gly353Ala
ENST00000644831.1:n.1513G>C
ENST00000644933.1:c.*203G>C	ENSP00000496133.1:n.*203G>C
ENST00000645285.1:c.*203G>C	ENSP00000495058.1:n.*203G>C
ENST00000645331.1:n.2542G>C
ENST00000645620.1:c.608G>C	ENSP00000493657.1:p.Gly203Ala
ENST00000646691.1:n.1224G>C
ENST00000646777.1:n.1670G>C
ENST00000647016.1:n.1817G>C
ENST00000647152.1:c.608G>C	ENSP00000495893.1:p.Gly203Ala
ENST00000647209.1:c.*1206G>C	ENSP00000495558.1:n.*1206G>C
ENST00000647346.1:n.2357G>C
ENST00000299427.10:c.1337G>C	ENSP00000299427.6:p.Gly446Ala
ENST00000524611.1:n.215G>C
ENST00000532191.1:n.390G>C
ENST00000533371.5:c.608G>C	ENSP00000437066.1:p.Gly203Ala
ENST00000611494.4:c.1337G>C	ENSP00000484546.1:p.Gly446Ala
NM_000391.3:c.1337G>C	NP_000382.3:p.Gly446Ala
NM_000391.4:c.1337G>C MANE Select	NP_000382.3:p.Gly446Ala