Canonical Allele Identifier: CA379473647

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637240A>C (hg19) ; chr11:g.6616009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616009A>C , CM000673.2:g.6616009A>C	GRCh38
NC_000011.9:g.6637240A>C , CM000673.1:g.6637240A>C	GRCh37
NC_000011.8:g.6593816A>C	NCBI36
NG_008653.1:g.8453T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1027T>G	ENSP00000507321.1:p.Ser343Ala
ENST00000299427.12:c.1141T>G MANE Select	ENSP00000299427.6:p.Ser381Ala
ENST00000436873.7:c.378T>G
ENST00000524924.2:n.261T>G
ENST00000533371.6:c.412T>G	ENSP00000437066.1:p.Ser138Ala
ENST00000642892.1:c.412T>G	ENSP00000494165.1:p.Ser138Ala
ENST00000643342.1:c.231T>G
ENST00000643439.1:c.*881T>G	ENSP00000495849.1:n.*881T>G
ENST00000643479.1:n.1327T>G
ENST00000643516.1:c.650T>G
ENST00000644218.1:c.952T>G	ENSP00000493574.1:p.Ser318Ala
ENST00000644683.1:c.*594T>G	ENSP00000494085.1:n.*594T>G
ENST00000644810.1:c.862T>G	ENSP00000495895.1:p.Ser288Ala
ENST00000644831.1:n.1317T>G
ENST00000644933.1:c.412T>G	ENSP00000496133.1:p.Ser138Ala
ENST00000645285.1:c.223T>G	ENSP00000495058.1:p.Ser75Ala
ENST00000645331.1:n.1904T>G
ENST00000645620.1:c.412T>G	ENSP00000493657.1:p.Ser138Ala
ENST00000646691.1:n.474T>G
ENST00000646777.1:n.1474T>G
ENST00000647016.1:n.1621T>G
ENST00000647152.1:c.412T>G	ENSP00000495893.1:p.Ser138Ala
ENST00000647209.1:c.*1010T>G	ENSP00000495558.1:n.*1010T>G
ENST00000647346.1:n.2161T>G
ENST00000299427.10:c.1141T>G	ENSP00000299427.6:p.Ser381Ala
ENST00000524924.1:n.96T>G
ENST00000533371.5:c.412T>G	ENSP00000437066.1:p.Ser138Ala
ENST00000611494.4:c.1141T>G	ENSP00000484546.1:p.Ser381Ala
NM_000391.3:c.1141T>G	NP_000382.3:p.Ser381Ala
NM_000391.4:c.1141T>G MANE Select	NP_000382.3:p.Ser381Ala