Canonical Allele Identifier: CA379472513

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636406G>T (hg19) ; chr11:g.6615175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615175G>T , CM000673.2:g.6615175G>T	GRCh38
NC_000011.9:g.6636406G>T , CM000673.1:g.6636406G>T	GRCh37
NC_000011.8:g.6592982G>T	NCBI36
NG_008653.1:g.9287C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1307C>A	ENSP00000507321.1:p.Thr436Asn
ENST00000299427.12:c.1421C>A MANE Select	ENSP00000299427.6:p.Thr474Asn
ENST00000524611.2:n.281C>A
ENST00000524924.2:n.541C>A
ENST00000533371.6:c.692C>A	ENSP00000437066.1:p.Thr231Asn
ENST00000642892.1:c.692C>A	ENSP00000494165.1:p.Thr231Asn
ENST00000643342.1:c.494C>A
ENST00000643439.1:c.*1161C>A	ENSP00000495849.1:n.*1161C>A
ENST00000643479.1:n.1607C>A
ENST00000643516.1:c.930C>A
ENST00000644218.1:c.1232C>A	ENSP00000493574.1:p.Thr411Asn
ENST00000644683.1:c.*874C>A	ENSP00000494085.1:n.*874C>A
ENST00000644810.1:c.1142C>A	ENSP00000495895.1:p.Thr381Asn
ENST00000644831.1:n.1597C>A
ENST00000644933.1:c.*287C>A	ENSP00000496133.1:n.*287C>A
ENST00000645285.1:c.*287C>A	ENSP00000495058.1:n.*287C>A
ENST00000645331.1:n.2626C>A
ENST00000645620.1:c.692C>A	ENSP00000493657.1:p.Thr231Asn
ENST00000646691.1:n.1308C>A
ENST00000646777.1:n.1754C>A
ENST00000647016.1:n.1901C>A
ENST00000647152.1:c.692C>A	ENSP00000495893.1:p.Thr231Asn
ENST00000647209.1:c.*1290C>A	ENSP00000495558.1:n.*1290C>A
ENST00000647346.1:n.2441C>A
ENST00000299427.10:c.1421C>A	ENSP00000299427.6:p.Thr474Asn
ENST00000524611.1:n.299C>A
ENST00000533371.5:c.692C>A	ENSP00000437066.1:p.Thr231Asn
ENST00000611494.4:c.1421C>A	ENSP00000484546.1:p.Thr474Asn
NM_000391.3:c.1421C>A	NP_000382.3:p.Thr474Asn
NM_000391.4:c.1421C>A MANE Select	NP_000382.3:p.Thr474Asn