Canonical Allele Identifier: CA379474207

Gene: TPP1

Linked Data

• COSMIC: COSM6250507
• MyVariant Identifiers: chr11:g.6637622G>T (hg19) ; chr11:g.6616391G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616391G>T , CM000673.2:g.6616391G>T	GRCh38
NC_000011.9:g.6637622G>T , CM000673.1:g.6637622G>T	GRCh37
NC_000011.8:g.6594198G>T	NCBI36
NG_008653.1:g.8071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.885C>A	ENSP00000507321.1:p.Ser295Arg
ENST00000299427.12:c.999C>A MANE Select	ENSP00000299427.6:p.Ser333Arg
ENST00000436873.7:c.313-317C>A
ENST00000533371.6:c.270C>A	ENSP00000437066.1:p.Ser90Arg
ENST00000642892.1:c.270C>A	ENSP00000494165.1:p.Ser90Arg
ENST00000643342.1:c.89C>A
ENST00000643439.1:c.*739C>A	ENSP00000495849.1:n.*739C>A
ENST00000643479.1:n.1185C>A
ENST00000643516.1:c.508C>A
ENST00000644218.1:c.886+270C>A	ENSP00000493574.1:n.886+270C>A
ENST00000644683.1:c.*452C>A	ENSP00000494085.1:n.*452C>A
ENST00000644810.1:c.720C>A	ENSP00000495895.1:p.Ser240Arg
ENST00000644831.1:n.1175C>A
ENST00000644933.1:c.270C>A	ENSP00000496133.1:p.Ser90Arg
ENST00000645285.1:c.157+270C>A	ENSP00000495058.1:n.157+270C>A
ENST00000645331.1:n.1522C>A
ENST00000645620.1:c.270C>A	ENSP00000493657.1:p.Ser90Arg
ENST00000646691.1:n.92C>A
ENST00000646777.1:n.1332C>A
ENST00000647016.1:n.1479C>A
ENST00000647152.1:c.270C>A	ENSP00000495893.1:p.Ser90Arg
ENST00000647209.1:c.*868C>A	ENSP00000495558.1:n.*868C>A
ENST00000647346.1:n.2019C>A
ENST00000299427.10:c.999C>A	ENSP00000299427.6:p.Ser333Arg
ENST00000533371.5:c.270C>A	ENSP00000437066.1:p.Ser90Arg
ENST00000611494.4:c.999C>A	ENSP00000484546.1:p.Ser333Arg
NM_000391.3:c.999C>A	NP_000382.3:p.Ser333Arg
NM_000391.4:c.999C>A MANE Select	NP_000382.3:p.Ser333Arg