Canonical Allele Identifier: CA379471950

Gene: TPP1

Linked Data

• dbSNP Id: rs1855545850
• gnomAD v3: 11-6614563-T-G
• gnomAD v4: 11-6614563-T-G
• MyVariant Identifiers: chr11:g.6635794T>G (hg19) ; chr11:g.6614563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614563T>G , CM000673.2:g.6614563T>G	GRCh38
NC_000011.9:g.6635794T>G , CM000673.1:g.6635794T>G	GRCh37
NC_000011.8:g.6592370T>G	NCBI36
NG_008653.1:g.9899A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1561A>C	ENSP00000507321.1:p.Thr521Pro
ENST00000299427.12:c.1675A>C MANE Select	ENSP00000299427.6:p.Thr559Pro
ENST00000524611.2:n.714A>C
ENST00000533371.6:c.946A>C	ENSP00000437066.1:p.Thr316Pro
ENST00000642892.1:c.946A>C	ENSP00000494165.1:p.Thr316Pro
ENST00000643342.1:c.748A>C
ENST00000643439.1:c.*1415A>C	ENSP00000495849.1:n.*1415A>C
ENST00000643479.1:n.1861A>C
ENST00000643516.1:c.1184A>C
ENST00000644218.1:c.1486A>C	ENSP00000493574.1:p.Thr496Pro
ENST00000644683.1:c.*1128A>C	ENSP00000494085.1:n.*1128A>C
ENST00000644810.1:c.1396A>C	ENSP00000495895.1:p.Thr466Pro
ENST00000644831.1:n.1851A>C
ENST00000644933.1:c.*541A>C	ENSP00000496133.1:n.*541A>C
ENST00000645285.1:c.*541A>C	ENSP00000495058.1:n.*541A>C
ENST00000645331.1:n.2880A>C
ENST00000645620.1:c.946A>C	ENSP00000493657.1:p.Thr316Pro
ENST00000646691.1:n.1562A>C
ENST00000646777.1:n.2008A>C
ENST00000647016.1:n.2155A>C
ENST00000647152.1:c.946A>C	ENSP00000495893.1:p.Thr316Pro
ENST00000647209.1:c.*1544A>C	ENSP00000495558.1:n.*1544A>C
ENST00000647346.1:n.2695A>C
ENST00000299427.10:c.1675A>C	ENSP00000299427.6:p.Thr559Pro
ENST00000533371.5:c.946A>C	ENSP00000437066.1:p.Thr316Pro
ENST00000611494.4:c.*3A>C	ENSP00000484546.1:n.*3A>C
NM_000391.3:c.1675A>C	NP_000382.3:p.Thr559Pro
NM_000391.4:c.1675A>C MANE Select	NP_000382.3:p.Thr559Pro