Canonical Allele Identifier: CA379472502

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1509301
• ClinVar RCV Id: RCV002017801
• dbSNP Id: rs2134591515
• MyVariant Identifiers: chr11:g.6636400A>C (hg19) ; chr11:g.6615169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615169A>C , CM000673.2:g.6615169A>C	GRCh38
NC_000011.9:g.6636400A>C , CM000673.1:g.6636400A>C	GRCh37
NC_000011.8:g.6592976A>C	NCBI36
NG_008653.1:g.9293T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1311+2T>G	ENSP00000507321.1:n.1311+2T>G
ENST00000299427.12:c.1425+2T>G MANE Select	ENSP00000299427.6:n.1425+2T>G
ENST00000524611.2:n.285+2T>G
ENST00000524924.2:n.545+2T>G
ENST00000533371.6:c.696+2T>G	ENSP00000437066.1:n.696+2T>G
ENST00000642892.1:c.696+2T>G	ENSP00000494165.1:n.696+2T>G
ENST00000643342.1:c.498+2T>G
ENST00000643439.1:c.*1165+2T>G	ENSP00000495849.1:n.*1165+2T>G
ENST00000643479.1:n.1611+2T>G
ENST00000643516.1:c.934+2T>G
ENST00000644218.1:c.1236+2T>G	ENSP00000493574.1:n.1236+2T>G
ENST00000644683.1:c.*878+2T>G	ENSP00000494085.1:n.*878+2T>G
ENST00000644810.1:c.1146+2T>G	ENSP00000495895.1:n.1146+2T>G
ENST00000644831.1:n.1601+2T>G
ENST00000644933.1:c.*291+2T>G	ENSP00000496133.1:n.*291+2T>G
ENST00000645285.1:c.*291+2T>G	ENSP00000495058.1:n.*291+2T>G
ENST00000645331.1:n.2630+2T>G
ENST00000645620.1:c.696+2T>G	ENSP00000493657.1:n.696+2T>G
ENST00000646691.1:n.1312+2T>G
ENST00000646777.1:n.1758+2T>G
ENST00000647016.1:n.1905+2T>G
ENST00000647152.1:c.696+2T>G	ENSP00000495893.1:n.696+2T>G
ENST00000647209.1:c.*1294+2T>G	ENSP00000495558.1:n.*1294+2T>G
ENST00000647346.1:n.2445+2T>G
ENST00000299427.10:c.1425+2T>G	ENSP00000299427.6:n.1425+2T>G
ENST00000524611.1:n.303+2T>G
ENST00000533371.5:c.696+2T>G	ENSP00000437066.1:n.696+2T>G
ENST00000611494.4:c.1425+2T>G	ENSP00000484546.1:n.1425+2T>G
NM_000391.3:c.1425+2T>G	NP_000382.3:n.1425+2T>G
NM_000391.4:c.1425+2T>G MANE Select	NP_000382.3:n.1425+2T>G