Canonical Allele Identifier: CA217323130

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1026862
• ClinVar RCV Id: RCV001327378
• dbSNP Id: rs1000290348
• gnomAD v2: 11-6638036-C-T
• gnomAD v3: 11-6616805-C-T
• gnomAD v4: 11-6616805-C-T
• COSMIC: COSM2040584
• MyVariant Identifiers: chr11:g.6638036C>T (hg19) ; chr11:g.6616805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616805C>T , CM000673.2:g.6616805C>T	GRCh38
NC_000011.9:g.6638036C>T , CM000673.1:g.6638036C>T	GRCh37
NC_000011.8:g.6594612C>T	NCBI36
NG_008653.1:g.7657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.628G>A	ENSP00000507321.1:p.Gly210Ser
ENST00000299427.12:c.742G>A MANE Select	ENSP00000299427.6:p.Gly248Ser
ENST00000436873.7:c.312+496G>A
ENST00000524788.2:n.1901G>A
ENST00000524903.2:n.2017G>A
ENST00000528807.2:n.398G>A
ENST00000530040.2:n.480-302G>A
ENST00000533371.6:c.13G>A	ENSP00000437066.1:p.Gly5Ser
ENST00000642892.1:c.13G>A	ENSP00000494165.1:p.Gly5Ser
ENST00000643439.1:c.*482G>A	ENSP00000495849.1:n.*482G>A
ENST00000643479.1:n.771G>A
ENST00000643516.1:c.396-302G>A
ENST00000644151.1:n.2181G>A
ENST00000644218.1:c.742G>A	ENSP00000493574.1:p.Gly248Ser
ENST00000644683.1:c.*195G>A	ENSP00000494085.1:n.*195G>A
ENST00000644810.1:c.463G>A	ENSP00000495895.1:p.Gly155Ser
ENST00000644831.1:n.918G>A
ENST00000644933.1:c.13G>A	ENSP00000496133.1:p.Gly5Ser
ENST00000645020.1:n.2032G>A
ENST00000645285.1:c.13G>A	ENSP00000495058.1:p.Gly5Ser
ENST00000645331.1:n.1108G>A
ENST00000645620.1:c.13G>A	ENSP00000493657.1:p.Gly5Ser
ENST00000646777.1:n.918G>A
ENST00000647016.1:n.1222G>A
ENST00000647152.1:c.13G>A	ENSP00000495893.1:p.Gly5Ser
ENST00000647209.1:c.*611G>A	ENSP00000495558.1:n.*611G>A
ENST00000647346.1:n.1762G>A
ENST00000299427.10:c.742G>A	ENSP00000299427.6:p.Gly248Ser
ENST00000436873.6:c.451-302G>A	ENSP00000398136.2:n.451-302G>A
ENST00000524788.1:n.442G>A
ENST00000528807.1:n.292G>A
ENST00000533371.5:c.13G>A	ENSP00000437066.1:p.Gly5Ser
ENST00000611494.4:c.742G>A	ENSP00000484546.1:p.Gly248Ser
NM_000391.3:c.742G>A	NP_000382.3:p.Gly248Ser
NM_000391.4:c.742G>A MANE Select	NP_000382.3:p.Gly248Ser