Canonical Allele Identifier: CA379475505

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638304G>C (hg19) ; chr11:g.6617073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617073G>C , CM000673.2:g.6617073G>C	GRCh38
NC_000011.9:g.6638304G>C , CM000673.1:g.6638304G>C	GRCh37
NC_000011.8:g.6594880G>C	NCBI36
NG_008653.1:g.7389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.475C>G	ENSP00000507321.1:p.His159Asp
ENST00000299427.12:c.589C>G MANE Select	ENSP00000299427.6:p.His197Asp
ENST00000428886.7:n.824C>G
ENST00000436873.7:c.312+228C>G
ENST00000524788.2:n.1748C>G
ENST00000524903.2:n.1864C>G
ENST00000528807.2:n.245C>G
ENST00000530040.2:n.479+286C>G
ENST00000533371.6:c.-141C>G	ENSP00000437066.1:n.-141C>G
ENST00000534644.6:n.537C>G
ENST00000642892.1:c.-141C>G	ENSP00000494165.1:n.-141C>G
ENST00000643439.1:c.*329C>G	ENSP00000495849.1:n.*329C>G
ENST00000643479.1:n.618C>G
ENST00000643516.1:c.395+228C>G
ENST00000644151.1:n.2028C>G
ENST00000644218.1:c.589C>G	ENSP00000493574.1:p.His197Asp
ENST00000644683.1:c.*42C>G	ENSP00000494085.1:n.*42C>G
ENST00000644810.1:c.310C>G	ENSP00000495895.1:p.His104Asp
ENST00000644831.1:n.765C>G
ENST00000644933.1:c.-141C>G	ENSP00000496133.1:n.-141C>G
ENST00000645020.1:n.1764C>G
ENST00000645285.1:c.-141C>G	ENSP00000495058.1:n.-141C>G
ENST00000645331.1:n.955C>G
ENST00000645620.1:c.-141C>G	ENSP00000493657.1:n.-141C>G
ENST00000646777.1:n.765C>G
ENST00000647016.1:n.1069C>G
ENST00000647152.1:c.-141C>G	ENSP00000495893.1:n.-141C>G
ENST00000647209.1:c.*458C>G	ENSP00000495558.1:n.*458C>G
ENST00000647346.1:n.1609C>G
ENST00000299427.10:c.589C>G	ENSP00000299427.6:p.His197Asp
ENST00000428886.6:n.758C>G
ENST00000436873.6:c.450+286C>G	ENSP00000398136.2:n.450+286C>G
ENST00000524788.1:n.289C>G
ENST00000528571.5:c.*329C>G	ENSP00000434647.1:n.*329C>G
ENST00000528807.1:n.139C>G
ENST00000533371.5:c.-141C>G	ENSP00000437066.1:n.-141C>G
ENST00000534644.5:n.574C>G
ENST00000611494.4:c.589C>G	ENSP00000484546.1:p.His197Asp
NM_000391.3:c.589C>G	NP_000382.3:p.His197Asp
NM_000391.4:c.589C>G MANE Select	NP_000382.3:p.His197Asp