Canonical Allele Identifier: CA5858958

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2015750
• ClinVar RCV Id: RCV002843557
• dbSNP Id: rs763872439
• ExAC: 11:6638632 A / G
• gnomAD v2: 11-6638632-A-G
• MyVariant Identifiers: chr11:g.6638632A>G (hg19) ; chr11:g.6617401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617401A>G , CM000673.2:g.6617401A>G	GRCh38
NC_000011.9:g.6638632A>G , CM000673.1:g.6638632A>G	GRCh37
NC_000011.8:g.6595208A>G	NCBI36
NG_008653.1:g.7061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.294T>C	ENSP00000507321.1:p.Ala98=
ENST00000299427.12:c.408T>C MANE Select	ENSP00000299427.6:p.Ala136=
ENST00000428886.7:n.496T>C
ENST00000436873.7:c.212T>C
ENST00000524788.2:n.1420T>C
ENST00000524903.2:n.1536T>C
ENST00000528571.6:c.*148T>C	ENSP00000434647.1:n.*148T>C
ENST00000528807.2:n.64T>C
ENST00000530040.2:n.437T>C
ENST00000533371.6:c.-322T>C	ENSP00000437066.1:n.-322T>C
ENST00000534644.6:n.409T>C
ENST00000642892.1:c.-269T>C	ENSP00000494165.1:n.-269T>C
ENST00000643439.1:c.*148T>C	ENSP00000495849.1:n.*148T>C
ENST00000643479.1:n.437T>C
ENST00000643516.1:c.295T>C
ENST00000644151.1:n.1700T>C
ENST00000644218.1:c.408T>C	ENSP00000493574.1:p.Ala136=
ENST00000644683.1:c.408T>C	ENSP00000494085.1:p.Ala136=
ENST00000644810.1:c.230-248T>C	ENSP00000495895.1:n.230-248T>C
ENST00000644831.1:n.437T>C
ENST00000644933.1:c.-322T>C	ENSP00000496133.1:n.-322T>C
ENST00000645020.1:n.1436T>C
ENST00000645285.1:c.-322T>C	ENSP00000495058.1:n.-322T>C
ENST00000645331.1:n.627T>C
ENST00000645620.1:c.-264T>C	ENSP00000493657.1:n.-264T>C
ENST00000646777.1:n.437T>C
ENST00000647016.1:n.741T>C
ENST00000647152.1:c.-322T>C	ENSP00000495893.1:n.-322T>C
ENST00000647209.1:c.*277T>C	ENSP00000495558.1:n.*277T>C
ENST00000647346.1:n.1428T>C
ENST00000299427.10:c.408T>C	ENSP00000299427.6:p.Ala136=
ENST00000428886.6:n.430T>C
ENST00000436873.6:c.408T>C	ENSP00000398136.2:p.Ala136=
ENST00000528571.5:c.*148T>C	ENSP00000434647.1:n.*148T>C
ENST00000530040.1:n.520T>C
ENST00000533371.5:c.-322T>C	ENSP00000437066.1:n.-322T>C
ENST00000534644.5:n.393T>C
ENST00000611494.4:c.408T>C	ENSP00000484546.1:p.Ala136=
NM_000391.3:c.408T>C	NP_000382.3:p.Ala136=
NM_000391.4:c.408T>C MANE Select	NP_000382.3:p.Ala136=