Canonical Allele Identifier: CA379472634

Gene: TPP1

Linked Data

• dbSNP Id: rs1855560603
• MyVariant Identifiers: chr11:g.6636461A>G (hg19) ; chr11:g.6615230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615230A>G , CM000673.2:g.6615230A>G	GRCh38
NC_000011.9:g.6636461A>G , CM000673.1:g.6636461A>G	GRCh37
NC_000011.8:g.6593037A>G	NCBI36
NG_008653.1:g.9232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1252T>C	ENSP00000507321.1:p.Ser418Pro
ENST00000299427.12:c.1366T>C MANE Select	ENSP00000299427.6:p.Ser456Pro
ENST00000524611.2:n.226T>C
ENST00000524924.2:n.486T>C
ENST00000533371.6:c.637T>C	ENSP00000437066.1:p.Ser213Pro
ENST00000642892.1:c.637T>C	ENSP00000494165.1:p.Ser213Pro
ENST00000643342.1:c.439T>C
ENST00000643439.1:c.*1106T>C	ENSP00000495849.1:n.*1106T>C
ENST00000643479.1:n.1552T>C
ENST00000643516.1:c.875T>C
ENST00000644218.1:c.1177T>C	ENSP00000493574.1:p.Ser393Pro
ENST00000644683.1:c.*819T>C	ENSP00000494085.1:n.*819T>C
ENST00000644810.1:c.1087T>C	ENSP00000495895.1:p.Ser363Pro
ENST00000644831.1:n.1542T>C
ENST00000644933.1:c.*232T>C	ENSP00000496133.1:n.*232T>C
ENST00000645285.1:c.*232T>C	ENSP00000495058.1:n.*232T>C
ENST00000645331.1:n.2571T>C
ENST00000645620.1:c.637T>C	ENSP00000493657.1:p.Ser213Pro
ENST00000646691.1:n.1253T>C
ENST00000646777.1:n.1699T>C
ENST00000647016.1:n.1846T>C
ENST00000647152.1:c.637T>C	ENSP00000495893.1:p.Ser213Pro
ENST00000647209.1:c.*1235T>C	ENSP00000495558.1:n.*1235T>C
ENST00000647346.1:n.2386T>C
ENST00000299427.10:c.1366T>C	ENSP00000299427.6:p.Ser456Pro
ENST00000524611.1:n.244T>C
ENST00000532191.1:n.419T>C
ENST00000533371.5:c.637T>C	ENSP00000437066.1:p.Ser213Pro
ENST00000611494.4:c.1366T>C	ENSP00000484546.1:p.Ser456Pro
NM_000391.3:c.1366T>C	NP_000382.3:p.Ser456Pro
NM_000391.4:c.1366T>C MANE Select	NP_000382.3:p.Ser456Pro