Canonical Allele Identifier: CA379472042

Gene: TPP1

Linked Data

• dbSNP Id: rs767154380
• gnomAD v4: 11-6614601-G-C
• MyVariant Identifiers: chr11:g.6635832G>C (hg19) ; chr11:g.6614601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614601G>C , CM000673.2:g.6614601G>C	GRCh38
NC_000011.9:g.6635832G>C , CM000673.1:g.6635832G>C	GRCh37
NC_000011.8:g.6592408G>C	NCBI36
NG_008653.1:g.9861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1523C>G	ENSP00000507321.1:p.Thr508Arg
ENST00000299427.12:c.1637C>G MANE Select	ENSP00000299427.6:p.Thr546Arg
ENST00000524611.2:n.676C>G
ENST00000524924.2:n.757C>G
ENST00000533371.6:c.908C>G	ENSP00000437066.1:p.Thr303Arg
ENST00000642892.1:c.908C>G	ENSP00000494165.1:p.Thr303Arg
ENST00000643342.1:c.710C>G
ENST00000643439.1:c.*1377C>G	ENSP00000495849.1:n.*1377C>G
ENST00000643479.1:n.1823C>G
ENST00000643516.1:c.1146C>G
ENST00000644218.1:c.1448C>G	ENSP00000493574.1:p.Thr483Arg
ENST00000644683.1:c.*1090C>G	ENSP00000494085.1:n.*1090C>G
ENST00000644810.1:c.1358C>G	ENSP00000495895.1:p.Thr453Arg
ENST00000644831.1:n.1813C>G
ENST00000644933.1:c.*503C>G	ENSP00000496133.1:n.*503C>G
ENST00000645285.1:c.*503C>G	ENSP00000495058.1:n.*503C>G
ENST00000645331.1:n.2842C>G
ENST00000645620.1:c.908C>G	ENSP00000493657.1:p.Thr303Arg
ENST00000646691.1:n.1524C>G
ENST00000646777.1:n.1970C>G
ENST00000647016.1:n.2117C>G
ENST00000647152.1:c.908C>G	ENSP00000495893.1:p.Thr303Arg
ENST00000647209.1:c.*1506C>G	ENSP00000495558.1:n.*1506C>G
ENST00000647346.1:n.2657C>G
ENST00000299427.10:c.1637C>G	ENSP00000299427.6:p.Thr546Arg
ENST00000533371.5:c.908C>G	ENSP00000437066.1:p.Thr303Arg
ENST00000611494.4:c.1637C>G	ENSP00000484546.1:p.Thr546Arg
NM_000391.3:c.1637C>G	NP_000382.3:p.Thr546Arg
NM_000391.4:c.1637C>G MANE Select	NP_000382.3:p.Thr546Arg