Canonical Allele Identifier: CA5858601

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1431069
• ClinVar RCV Id: RCV001971980
• dbSNP Id: rs757367088
• ExAC: 11:6635877 A / G
• gnomAD v2: 11-6635877-A-G
• gnomAD v3: 11-6614646-A-G
• gnomAD v4: 11-6614646-A-G
• MyVariant Identifiers: chr11:g.6635877A>G (hg19) ; chr11:g.6614646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614646A>G , CM000673.2:g.6614646A>G	GRCh38
NC_000011.9:g.6635877A>G , CM000673.1:g.6635877A>G	GRCh37
NC_000011.8:g.6592453A>G	NCBI36
NG_008653.1:g.9816T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1478T>C	ENSP00000507321.1:p.Val493Ala
ENST00000299427.12:c.1592T>C MANE Select	ENSP00000299427.6:p.Val531Ala
ENST00000524611.2:n.631T>C
ENST00000524924.2:n.712T>C
ENST00000533371.6:c.863T>C	ENSP00000437066.1:p.Val288Ala
ENST00000642892.1:c.863T>C	ENSP00000494165.1:p.Val288Ala
ENST00000643342.1:c.665T>C
ENST00000643439.1:c.*1332T>C	ENSP00000495849.1:n.*1332T>C
ENST00000643479.1:n.1778T>C
ENST00000643516.1:c.1101T>C
ENST00000644218.1:c.1403T>C	ENSP00000493574.1:p.Val468Ala
ENST00000644683.1:c.*1045T>C	ENSP00000494085.1:n.*1045T>C
ENST00000644810.1:c.1313T>C	ENSP00000495895.1:p.Val438Ala
ENST00000644831.1:n.1768T>C
ENST00000644933.1:c.*458T>C	ENSP00000496133.1:n.*458T>C
ENST00000645285.1:c.*458T>C	ENSP00000495058.1:n.*458T>C
ENST00000645331.1:n.2797T>C
ENST00000645620.1:c.863T>C	ENSP00000493657.1:p.Val288Ala
ENST00000646691.1:n.1479T>C
ENST00000646777.1:n.1925T>C
ENST00000647016.1:n.2072T>C
ENST00000647152.1:c.863T>C	ENSP00000495893.1:p.Val288Ala
ENST00000647209.1:c.*1461T>C	ENSP00000495558.1:n.*1461T>C
ENST00000647346.1:n.2612T>C
ENST00000299427.10:c.1592T>C	ENSP00000299427.6:p.Val531Ala
ENST00000524611.1:n.470T>C
ENST00000533371.5:c.863T>C	ENSP00000437066.1:p.Val288Ala
ENST00000611494.4:c.1592T>C	ENSP00000484546.1:p.Val531Ala
NM_000391.3:c.1592T>C	NP_000382.3:p.Val531Ala
NM_000391.4:c.1592T>C MANE Select	NP_000382.3:p.Val531Ala