Canonical Allele Identifier: CA379471939

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2150607
• ClinVar RCV Id: RCV003067655 ; RCV003384320
• dbSNP Id: rs566120191
• gnomAD v2: 11-6635788-G-A
• gnomAD v4: 11-6614557-G-A
• MyVariant Identifiers: chr11:g.6635788G>A (hg19) ; chr11:g.6614557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614557G>A , CM000673.2:g.6614557G>A	GRCh38
NC_000011.9:g.6635788G>A , CM000673.1:g.6635788G>A	GRCh37
NC_000011.8:g.6592364G>A	NCBI36
NG_008653.1:g.9905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1567C>T	ENSP00000507321.1:p.Leu523Phe
ENST00000299427.12:c.1681C>T MANE Select	ENSP00000299427.6:p.Leu561Phe
ENST00000524611.2:n.720C>T
ENST00000533371.6:c.952C>T	ENSP00000437066.1:p.Leu318Phe
ENST00000642892.1:c.952C>T	ENSP00000494165.1:p.Leu318Phe
ENST00000643342.1:c.754C>T
ENST00000643439.1:c.*1421C>T	ENSP00000495849.1:n.*1421C>T
ENST00000643479.1:n.1867C>T
ENST00000643516.1:c.1190C>T
ENST00000644218.1:c.1492C>T	ENSP00000493574.1:p.Leu498Phe
ENST00000644683.1:c.*1134C>T	ENSP00000494085.1:n.*1134C>T
ENST00000644810.1:c.1402C>T	ENSP00000495895.1:p.Leu468Phe
ENST00000644831.1:n.1857C>T
ENST00000644933.1:c.*547C>T	ENSP00000496133.1:n.*547C>T
ENST00000645285.1:c.*547C>T	ENSP00000495058.1:n.*547C>T
ENST00000645331.1:n.2886C>T
ENST00000645620.1:c.952C>T	ENSP00000493657.1:p.Leu318Phe
ENST00000646691.1:n.1568C>T
ENST00000646777.1:n.2014C>T
ENST00000647016.1:n.2161C>T
ENST00000647152.1:c.952C>T	ENSP00000495893.1:p.Leu318Phe
ENST00000647209.1:c.*1550C>T	ENSP00000495558.1:n.*1550C>T
ENST00000647346.1:n.2701C>T
ENST00000299427.10:c.1681C>T	ENSP00000299427.6:p.Leu561Phe
ENST00000533371.5:c.952C>T	ENSP00000437066.1:p.Leu318Phe
ENST00000611494.4:c.*9C>T	ENSP00000484546.1:n.*9C>T
NM_000391.3:c.1681C>T	NP_000382.3:p.Leu561Phe
NM_000391.4:c.1681C>T MANE Select	NP_000382.3:p.Leu561Phe