Canonical Allele Identifier: CA379472510

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636404A>C (hg19) ; chr11:g.6615173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615173A>C , CM000673.2:g.6615173A>C	GRCh38
NC_000011.9:g.6636404A>C , CM000673.1:g.6636404A>C	GRCh37
NC_000011.8:g.6592980A>C	NCBI36
NG_008653.1:g.9289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1309T>G	ENSP00000507321.1:p.Ser437Ala
ENST00000299427.12:c.1423T>G MANE Select	ENSP00000299427.6:p.Ser475Ala
ENST00000524611.2:n.283T>G
ENST00000524924.2:n.543T>G
ENST00000533371.6:c.694T>G	ENSP00000437066.1:p.Ser232Ala
ENST00000642892.1:c.694T>G	ENSP00000494165.1:p.Ser232Ala
ENST00000643342.1:c.496T>G
ENST00000643439.1:c.*1163T>G	ENSP00000495849.1:n.*1163T>G
ENST00000643479.1:n.1609T>G
ENST00000643516.1:c.932T>G
ENST00000644218.1:c.1234T>G	ENSP00000493574.1:p.Ser412Ala
ENST00000644683.1:c.*876T>G	ENSP00000494085.1:n.*876T>G
ENST00000644810.1:c.1144T>G	ENSP00000495895.1:p.Ser382Ala
ENST00000644831.1:n.1599T>G
ENST00000644933.1:c.*289T>G	ENSP00000496133.1:n.*289T>G
ENST00000645285.1:c.*289T>G	ENSP00000495058.1:n.*289T>G
ENST00000645331.1:n.2628T>G
ENST00000645620.1:c.694T>G	ENSP00000493657.1:p.Ser232Ala
ENST00000646691.1:n.1310T>G
ENST00000646777.1:n.1756T>G
ENST00000647016.1:n.1903T>G
ENST00000647152.1:c.694T>G	ENSP00000495893.1:p.Ser232Ala
ENST00000647209.1:c.*1292T>G	ENSP00000495558.1:n.*1292T>G
ENST00000647346.1:n.2443T>G
ENST00000299427.10:c.1423T>G	ENSP00000299427.6:p.Ser475Ala
ENST00000524611.1:n.301T>G
ENST00000533371.5:c.694T>G	ENSP00000437066.1:p.Ser232Ala
ENST00000611494.4:c.1423T>G	ENSP00000484546.1:p.Ser475Ala
NM_000391.3:c.1423T>G	NP_000382.3:p.Ser475Ala
NM_000391.4:c.1423T>G MANE Select	NP_000382.3:p.Ser475Ala