Canonical Allele Identifier: CA5858704

Gene: TPP1

Linked Data

• dbSNP Id: rs761960935
• ExAC: 11:6636730 A / G
• gnomAD v2: 11-6636730-A-G
• gnomAD v3: 11-6615499-A-G
• gnomAD v4: 11-6615499-A-G
• MyVariant Identifiers: chr11:g.6636730A>G (hg19) ; chr11:g.6615499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615499A>G , CM000673.2:g.6615499A>G	GRCh38
NC_000011.9:g.6636730A>G , CM000673.1:g.6636730A>G	GRCh37
NC_000011.8:g.6593306A>G	NCBI36
NG_008653.1:g.8963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1095T>C	ENSP00000507321.1:p.Ile365=
ENST00000299427.12:c.1209T>C MANE Select	ENSP00000299427.6:p.Ile403=
ENST00000436873.7:c.446T>C
ENST00000524924.2:n.329T>C
ENST00000533371.6:c.480T>C	ENSP00000437066.1:p.Ile160=
ENST00000642892.1:c.480T>C	ENSP00000494165.1:p.Ile160=
ENST00000643342.1:c.282T>C
ENST00000643439.1:c.*949T>C	ENSP00000495849.1:n.*949T>C
ENST00000643479.1:n.1395T>C
ENST00000643516.1:c.718T>C
ENST00000644218.1:c.1020T>C	ENSP00000493574.1:p.Ile340=
ENST00000644683.1:c.*662T>C	ENSP00000494085.1:n.*662T>C
ENST00000644810.1:c.930T>C	ENSP00000495895.1:p.Ile310=
ENST00000644831.1:n.1385T>C
ENST00000644933.1:c.*75T>C	ENSP00000496133.1:n.*75T>C
ENST00000645285.1:c.*75T>C	ENSP00000495058.1:n.*75T>C
ENST00000645331.1:n.2414T>C
ENST00000645620.1:c.480T>C	ENSP00000493657.1:p.Ile160=
ENST00000646691.1:n.984T>C
ENST00000646777.1:n.1542T>C
ENST00000647016.1:n.1689T>C
ENST00000647152.1:c.480T>C	ENSP00000495893.1:p.Ile160=
ENST00000647209.1:c.*1078T>C	ENSP00000495558.1:n.*1078T>C
ENST00000647346.1:n.2229T>C
ENST00000299427.10:c.1209T>C	ENSP00000299427.6:p.Ile403=
ENST00000524924.1:n.164T>C
ENST00000532191.1:n.262T>C
ENST00000533371.5:c.480T>C	ENSP00000437066.1:p.Ile160=
ENST00000611494.4:c.1209T>C	ENSP00000484546.1:p.Ile403=
NM_000391.3:c.1209T>C	NP_000382.3:p.Ile403=
NM_000391.4:c.1209T>C MANE Select	NP_000382.3:p.Ile403=