Canonical Allele Identifier: CA379473905

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637305C>G (hg19) ; chr11:g.6616074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616074C>G , CM000673.2:g.6616074C>G	GRCh38
NC_000011.9:g.6637305C>G , CM000673.1:g.6637305C>G	GRCh37
NC_000011.8:g.6593881C>G	NCBI36
NG_008653.1:g.8388G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.962G>C	ENSP00000507321.1:p.Gly321Ala
ENST00000299427.12:c.1076G>C MANE Select	ENSP00000299427.6:p.Gly359Ala
ENST00000436873.7:c.313G>C
ENST00000524924.2:n.196G>C
ENST00000533371.6:c.347G>C	ENSP00000437066.1:p.Gly116Ala
ENST00000642892.1:c.347G>C	ENSP00000494165.1:p.Gly116Ala
ENST00000643342.1:c.166G>C
ENST00000643439.1:c.*816G>C	ENSP00000495849.1:n.*816G>C
ENST00000643479.1:n.1262G>C
ENST00000643516.1:c.585G>C
ENST00000644218.1:c.887G>C	ENSP00000493574.1:p.Gly296Ala
ENST00000644683.1:c.*529G>C	ENSP00000494085.1:n.*529G>C
ENST00000644810.1:c.797G>C	ENSP00000495895.1:p.Gly266Ala
ENST00000644831.1:n.1252G>C
ENST00000644933.1:c.347G>C	ENSP00000496133.1:p.Gly116Ala
ENST00000645285.1:c.158G>C	ENSP00000495058.1:p.Gly53Ala
ENST00000645331.1:n.1839G>C
ENST00000645620.1:c.347G>C	ENSP00000493657.1:p.Gly116Ala
ENST00000646691.1:n.409G>C
ENST00000646777.1:n.1409G>C
ENST00000647016.1:n.1556G>C
ENST00000647152.1:c.347G>C	ENSP00000495893.1:p.Gly116Ala
ENST00000647209.1:c.*945G>C	ENSP00000495558.1:n.*945G>C
ENST00000647346.1:n.2096G>C
ENST00000299427.10:c.1076G>C	ENSP00000299427.6:p.Gly359Ala
ENST00000524924.1:n.31G>C
ENST00000533371.5:c.347G>C	ENSP00000437066.1:p.Gly116Ala
ENST00000611494.4:c.1076G>C	ENSP00000484546.1:p.Gly359Ala
NM_000391.3:c.1076G>C	NP_000382.3:p.Gly359Ala
NM_000391.4:c.1076G>C MANE Select	NP_000382.3:p.Gly359Ala