Canonical Allele Identifier: CA379475354

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638229T>C (hg19) ; chr11:g.6616998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616998T>C , CM000673.2:g.6616998T>C	GRCh38
NC_000011.9:g.6638229T>C , CM000673.1:g.6638229T>C	GRCh37
NC_000011.8:g.6594805T>C	NCBI36
NG_008653.1:g.7464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.550A>G	ENSP00000507321.1:p.Asn184Asp
ENST00000299427.12:c.664A>G MANE Select	ENSP00000299427.6:p.Asn222Asp
ENST00000436873.7:c.312+303A>G
ENST00000524788.2:n.1823A>G
ENST00000524903.2:n.1939A>G
ENST00000528807.2:n.320A>G
ENST00000530040.2:n.479+361A>G
ENST00000533371.6:c.-66A>G	ENSP00000437066.1:n.-66A>G
ENST00000534644.6:n.612A>G
ENST00000642892.1:c.-66A>G	ENSP00000494165.1:n.-66A>G
ENST00000643439.1:c.*404A>G	ENSP00000495849.1:n.*404A>G
ENST00000643479.1:n.693A>G
ENST00000643516.1:c.395+303A>G
ENST00000644151.1:n.2103A>G
ENST00000644218.1:c.664A>G	ENSP00000493574.1:p.Asn222Asp
ENST00000644683.1:c.*117A>G	ENSP00000494085.1:n.*117A>G
ENST00000644810.1:c.385A>G	ENSP00000495895.1:p.Asn129Asp
ENST00000644831.1:n.840A>G
ENST00000644933.1:c.-66A>G	ENSP00000496133.1:n.-66A>G
ENST00000645020.1:n.1839A>G
ENST00000645285.1:c.-66A>G	ENSP00000495058.1:n.-66A>G
ENST00000645331.1:n.1030A>G
ENST00000645620.1:c.-66A>G	ENSP00000493657.1:n.-66A>G
ENST00000646777.1:n.840A>G
ENST00000647016.1:n.1144A>G
ENST00000647152.1:c.-66A>G	ENSP00000495893.1:n.-66A>G
ENST00000647209.1:c.*533A>G	ENSP00000495558.1:n.*533A>G
ENST00000647346.1:n.1684A>G
ENST00000299427.10:c.664A>G	ENSP00000299427.6:p.Asn222Asp
ENST00000428886.6:n.833A>G
ENST00000436873.6:c.450+361A>G	ENSP00000398136.2:n.450+361A>G
ENST00000524788.1:n.364A>G
ENST00000528571.5:c.*404A>G	ENSP00000434647.1:n.*404A>G
ENST00000528807.1:n.214A>G
ENST00000533371.5:c.-66A>G	ENSP00000437066.1:n.-66A>G
ENST00000611494.4:c.664A>G	ENSP00000484546.1:p.Asn222Asp
NM_000391.3:c.664A>G	NP_000382.3:p.Asn222Asp
NM_000391.4:c.664A>G MANE Select	NP_000382.3:p.Asn222Asp