Canonical Allele Identifier: CA379472552

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615193-A-G
• MyVariant Identifiers: chr11:g.6636424A>G (hg19) ; chr11:g.6615193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615193A>G , CM000673.2:g.6615193A>G	GRCh38
NC_000011.9:g.6636424A>G , CM000673.1:g.6636424A>G	GRCh37
NC_000011.8:g.6593000A>G	NCBI36
NG_008653.1:g.9269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1289T>C	ENSP00000507321.1:p.Ile430Thr
ENST00000299427.12:c.1403T>C MANE Select	ENSP00000299427.6:p.Ile468Thr
ENST00000524611.2:n.263T>C
ENST00000524924.2:n.523T>C
ENST00000533371.6:c.674T>C	ENSP00000437066.1:p.Ile225Thr
ENST00000642892.1:c.674T>C	ENSP00000494165.1:p.Ile225Thr
ENST00000643342.1:c.476T>C
ENST00000643439.1:c.*1143T>C	ENSP00000495849.1:n.*1143T>C
ENST00000643479.1:n.1589T>C
ENST00000643516.1:c.912T>C
ENST00000644218.1:c.1214T>C	ENSP00000493574.1:p.Ile405Thr
ENST00000644683.1:c.*856T>C	ENSP00000494085.1:n.*856T>C
ENST00000644810.1:c.1124T>C	ENSP00000495895.1:p.Ile375Thr
ENST00000644831.1:n.1579T>C
ENST00000644933.1:c.*269T>C	ENSP00000496133.1:n.*269T>C
ENST00000645285.1:c.*269T>C	ENSP00000495058.1:n.*269T>C
ENST00000645331.1:n.2608T>C
ENST00000645620.1:c.674T>C	ENSP00000493657.1:p.Ile225Thr
ENST00000646691.1:n.1290T>C
ENST00000646777.1:n.1736T>C
ENST00000647016.1:n.1883T>C
ENST00000647152.1:c.674T>C	ENSP00000495893.1:p.Ile225Thr
ENST00000647209.1:c.*1272T>C	ENSP00000495558.1:n.*1272T>C
ENST00000647346.1:n.2423T>C
ENST00000299427.10:c.1403T>C	ENSP00000299427.6:p.Ile468Thr
ENST00000524611.1:n.281T>C
ENST00000533371.5:c.674T>C	ENSP00000437066.1:p.Ile225Thr
ENST00000611494.4:c.1403T>C	ENSP00000484546.1:p.Ile468Thr
NM_000391.3:c.1403T>C	NP_000382.3:p.Ile468Thr
NM_000391.4:c.1403T>C MANE Select	NP_000382.3:p.Ile468Thr