Canonical Allele Identifier: CA5858679

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305507
• ClinVar RCV Id: RCV000357888 ; RCV000867657
• dbSNP Id: rs577520250
• ExAC: 11:6636546 C / T
• gnomAD v2: 11-6636546-C-T
• gnomAD v3: 11-6615315-C-T
• gnomAD v4: 11-6615315-C-T
• COSMIC: COSM930815
• MyVariant Identifiers: chr11:g.6636546C>T (hg19) ; chr11:g.6615315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615315C>T , CM000673.2:g.6615315C>T	GRCh38
NC_000011.9:g.6636546C>T , CM000673.1:g.6636546C>T	GRCh37
NC_000011.8:g.6593122C>T	NCBI36
NG_008653.1:g.9147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1167G>A	ENSP00000507321.1:p.Thr389=
ENST00000299427.12:c.1281G>A MANE Select	ENSP00000299427.6:p.Thr427=
ENST00000524611.2:n.141G>A
ENST00000524924.2:n.401G>A
ENST00000533371.6:c.552G>A	ENSP00000437066.1:p.Thr184=
ENST00000642892.1:c.552G>A	ENSP00000494165.1:p.Thr184=
ENST00000643342.1:c.354G>A
ENST00000643439.1:c.*1021G>A	ENSP00000495849.1:n.*1021G>A
ENST00000643479.1:n.1467G>A
ENST00000643516.1:c.790G>A
ENST00000644218.1:c.1092G>A	ENSP00000493574.1:p.Thr364=
ENST00000644683.1:c.*734G>A	ENSP00000494085.1:n.*734G>A
ENST00000644810.1:c.1002G>A	ENSP00000495895.1:p.Thr334=
ENST00000644831.1:n.1457G>A
ENST00000644933.1:c.*147G>A	ENSP00000496133.1:n.*147G>A
ENST00000645285.1:c.*147G>A	ENSP00000495058.1:n.*147G>A
ENST00000645331.1:n.2486G>A
ENST00000645620.1:c.552G>A	ENSP00000493657.1:p.Thr184=
ENST00000646691.1:n.1168G>A
ENST00000646777.1:n.1614G>A
ENST00000647016.1:n.1761G>A
ENST00000647152.1:c.552G>A	ENSP00000495893.1:p.Thr184=
ENST00000647209.1:c.*1150G>A	ENSP00000495558.1:n.*1150G>A
ENST00000647346.1:n.2301G>A
ENST00000299427.10:c.1281G>A	ENSP00000299427.6:p.Thr427=
ENST00000524611.1:n.159G>A
ENST00000524924.1:n.236G>A
ENST00000532191.1:n.334G>A
ENST00000533371.5:c.552G>A	ENSP00000437066.1:p.Thr184=
ENST00000611494.4:c.1281G>A	ENSP00000484546.1:p.Thr427=
NM_000391.3:c.1281G>A	NP_000382.3:p.Thr427=
NM_000391.4:c.1281G>A MANE Select	NP_000382.3:p.Thr427=