Canonical Allele Identifier: CA379475104

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1726629
• ClinVar RCV Id: RCV002310313
• MyVariant Identifiers: chr11:g.6638011G>T (hg19) ; chr11:g.6616780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616780G>T , CM000673.2:g.6616780G>T	GRCh38
NC_000011.9:g.6638011G>T , CM000673.1:g.6638011G>T	GRCh37
NC_000011.8:g.6594587G>T	NCBI36
NG_008653.1:g.7682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.653C>A	ENSP00000507321.1:p.Ser218Ter
ENST00000299427.12:c.767C>A MANE Select	ENSP00000299427.6:p.Ser256Ter
ENST00000436873.7:c.312+521C>A
ENST00000524788.2:n.1926C>A
ENST00000524903.2:n.2042C>A
ENST00000528807.2:n.423C>A
ENST00000530040.2:n.480-277C>A
ENST00000533371.6:c.38C>A	ENSP00000437066.1:p.Ser13Ter
ENST00000642892.1:c.38C>A	ENSP00000494165.1:p.Ser13Ter
ENST00000643439.1:c.*507C>A	ENSP00000495849.1:n.*507C>A
ENST00000643479.1:n.796C>A
ENST00000643516.1:c.396-277C>A
ENST00000644151.1:n.2206C>A
ENST00000644218.1:c.767C>A	ENSP00000493574.1:p.Ser256Ter
ENST00000644683.1:c.*220C>A	ENSP00000494085.1:n.*220C>A
ENST00000644810.1:c.488C>A	ENSP00000495895.1:p.Ser163Ter
ENST00000644831.1:n.943C>A
ENST00000644933.1:c.38C>A	ENSP00000496133.1:p.Ser13Ter
ENST00000645020.1:n.2057C>A
ENST00000645285.1:c.38C>A	ENSP00000495058.1:p.Ser13Ter
ENST00000645331.1:n.1133C>A
ENST00000645620.1:c.38C>A	ENSP00000493657.1:p.Ser13Ter
ENST00000646777.1:n.943C>A
ENST00000647016.1:n.1247C>A
ENST00000647152.1:c.38C>A	ENSP00000495893.1:p.Ser13Ter
ENST00000647209.1:c.*636C>A	ENSP00000495558.1:n.*636C>A
ENST00000647346.1:n.1787C>A
ENST00000299427.10:c.767C>A	ENSP00000299427.6:p.Ser256Ter
ENST00000436873.6:c.451-277C>A	ENSP00000398136.2:n.451-277C>A
ENST00000524788.1:n.467C>A
ENST00000528807.1:n.317C>A
ENST00000533371.5:c.38C>A	ENSP00000437066.1:p.Ser13Ter
ENST00000611494.4:c.767C>A	ENSP00000484546.1:p.Ser256Ter
NM_000391.3:c.767C>A	NP_000382.3:p.Ser256Ter
NM_000391.4:c.767C>A MANE Select	NP_000382.3:p.Ser256Ter