Canonical Allele Identifier: CA379475225

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638066A>C (hg19) ; chr11:g.6616835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616835A>C , CM000673.2:g.6616835A>C	GRCh38
NC_000011.9:g.6638066A>C , CM000673.1:g.6638066A>C	GRCh37
NC_000011.8:g.6594642A>C	NCBI36
NG_008653.1:g.7627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.598T>G	ENSP00000507321.1:p.Ser200Ala
ENST00000299427.12:c.712T>G MANE Select	ENSP00000299427.6:p.Ser238Ala
ENST00000436873.7:c.312+466T>G
ENST00000524788.2:n.1871T>G
ENST00000524903.2:n.1987T>G
ENST00000528807.2:n.368T>G
ENST00000530040.2:n.480-332T>G
ENST00000533371.6:c.-18T>G	ENSP00000437066.1:n.-18T>G
ENST00000642892.1:c.-18T>G	ENSP00000494165.1:n.-18T>G
ENST00000643439.1:c.*452T>G	ENSP00000495849.1:n.*452T>G
ENST00000643479.1:n.741T>G
ENST00000643516.1:c.396-332T>G
ENST00000644151.1:n.2151T>G
ENST00000644218.1:c.712T>G	ENSP00000493574.1:p.Ser238Ala
ENST00000644683.1:c.*165T>G	ENSP00000494085.1:n.*165T>G
ENST00000644810.1:c.433T>G	ENSP00000495895.1:p.Ser145Ala
ENST00000644831.1:n.888T>G
ENST00000644933.1:c.-18T>G	ENSP00000496133.1:n.-18T>G
ENST00000645020.1:n.2002T>G
ENST00000645285.1:c.-18T>G	ENSP00000495058.1:n.-18T>G
ENST00000645331.1:n.1078T>G
ENST00000645620.1:c.-18T>G	ENSP00000493657.1:n.-18T>G
ENST00000646777.1:n.888T>G
ENST00000647016.1:n.1192T>G
ENST00000647152.1:c.-18T>G	ENSP00000495893.1:n.-18T>G
ENST00000647209.1:c.*581T>G	ENSP00000495558.1:n.*581T>G
ENST00000647346.1:n.1732T>G
ENST00000299427.10:c.712T>G	ENSP00000299427.6:p.Ser238Ala
ENST00000436873.6:c.451-332T>G	ENSP00000398136.2:n.451-332T>G
ENST00000524788.1:n.412T>G
ENST00000528807.1:n.262T>G
ENST00000533371.5:c.-18T>G	ENSP00000437066.1:n.-18T>G
ENST00000611494.4:c.712T>G	ENSP00000484546.1:p.Ser238Ala
NM_000391.3:c.712T>G	NP_000382.3:p.Ser238Ala
NM_000391.4:c.712T>G MANE Select	NP_000382.3:p.Ser238Ala