Canonical Allele Identifier: CA379472002

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635814T>G (hg19) ; chr11:g.6614583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614583T>G , CM000673.2:g.6614583T>G	GRCh38
NC_000011.9:g.6635814T>G , CM000673.1:g.6635814T>G	GRCh37
NC_000011.8:g.6592390T>G	NCBI36
NG_008653.1:g.9879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1541A>C	ENSP00000507321.1:p.Asn514Thr
ENST00000299427.12:c.1655A>C MANE Select	ENSP00000299427.6:p.Asn552Thr
ENST00000524611.2:n.694A>C
ENST00000533371.6:c.926A>C	ENSP00000437066.1:p.Asn309Thr
ENST00000642892.1:c.926A>C	ENSP00000494165.1:p.Asn309Thr
ENST00000643342.1:c.728A>C
ENST00000643439.1:c.*1395A>C	ENSP00000495849.1:n.*1395A>C
ENST00000643479.1:n.1841A>C
ENST00000643516.1:c.1164A>C
ENST00000644218.1:c.1466A>C	ENSP00000493574.1:p.Asn489Thr
ENST00000644683.1:c.*1108A>C	ENSP00000494085.1:n.*1108A>C
ENST00000644810.1:c.1376A>C	ENSP00000495895.1:p.Asn459Thr
ENST00000644831.1:n.1831A>C
ENST00000644933.1:c.*521A>C	ENSP00000496133.1:n.*521A>C
ENST00000645285.1:c.*521A>C	ENSP00000495058.1:n.*521A>C
ENST00000645331.1:n.2860A>C
ENST00000645620.1:c.926A>C	ENSP00000493657.1:p.Asn309Thr
ENST00000646691.1:n.1542A>C
ENST00000646777.1:n.1988A>C
ENST00000647016.1:n.2135A>C
ENST00000647152.1:c.926A>C	ENSP00000495893.1:p.Asn309Thr
ENST00000647209.1:c.*1524A>C	ENSP00000495558.1:n.*1524A>C
ENST00000647346.1:n.2675A>C
ENST00000299427.10:c.1655A>C	ENSP00000299427.6:p.Asn552Thr
ENST00000533371.5:c.926A>C	ENSP00000437066.1:p.Asn309Thr
ENST00000611494.4:c.1654A>C	ENSP00000484546.1:p.Thr552Pro
NM_000391.3:c.1655A>C	NP_000382.3:p.Asn552Thr
NM_000391.4:c.1655A>C MANE Select	NP_000382.3:p.Asn552Thr