Canonical Allele Identifier: CA379471937

Gene: TPP1

Linked Data

• dbSNP Id: rs1184246085
• gnomAD v4: 11-6614556-A-T
• MyVariant Identifiers: chr11:g.6635787A>T (hg19) ; chr11:g.6614556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614556A>T , CM000673.2:g.6614556A>T	GRCh38
NC_000011.9:g.6635787A>T , CM000673.1:g.6635787A>T	GRCh37
NC_000011.8:g.6592363A>T	NCBI36
NG_008653.1:g.9906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1568T>A	ENSP00000507321.1:p.Leu523His
ENST00000299427.12:c.1682T>A MANE Select	ENSP00000299427.6:p.Leu561His
ENST00000524611.2:n.721T>A
ENST00000533371.6:c.953T>A	ENSP00000437066.1:p.Leu318His
ENST00000642892.1:c.953T>A	ENSP00000494165.1:p.Leu318His
ENST00000643342.1:c.755T>A
ENST00000643439.1:c.*1422T>A	ENSP00000495849.1:n.*1422T>A
ENST00000643479.1:n.1868T>A
ENST00000643516.1:c.1191T>A
ENST00000644218.1:c.1493T>A	ENSP00000493574.1:p.Leu498His
ENST00000644683.1:c.*1135T>A	ENSP00000494085.1:n.*1135T>A
ENST00000644810.1:c.1403T>A	ENSP00000495895.1:p.Leu468His
ENST00000644831.1:n.1858T>A
ENST00000644933.1:c.*548T>A	ENSP00000496133.1:n.*548T>A
ENST00000645285.1:c.*548T>A	ENSP00000495058.1:n.*548T>A
ENST00000645331.1:n.2887T>A
ENST00000645620.1:c.953T>A	ENSP00000493657.1:p.Leu318His
ENST00000646691.1:n.1569T>A
ENST00000646777.1:n.2015T>A
ENST00000647016.1:n.2162T>A
ENST00000647152.1:c.953T>A	ENSP00000495893.1:p.Leu318His
ENST00000647209.1:c.*1551T>A	ENSP00000495558.1:n.*1551T>A
ENST00000647346.1:n.2702T>A
ENST00000299427.10:c.1682T>A	ENSP00000299427.6:p.Leu561His
ENST00000533371.5:c.953T>A	ENSP00000437066.1:p.Leu318His
ENST00000611494.4:c.*10T>A	ENSP00000484546.1:n.*10T>A
NM_000391.3:c.1682T>A	NP_000382.3:p.Leu561His
NM_000391.4:c.1682T>A MANE Select	NP_000382.3:p.Leu561His