Canonical Allele Identifier: CA379472883

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615458-G-A
• MyVariant Identifiers: chr11:g.6636689G>A (hg19) ; chr11:g.6615458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615458G>A , CM000673.2:g.6615458G>A	GRCh38
NC_000011.9:g.6636689G>A , CM000673.1:g.6636689G>A	GRCh37
NC_000011.8:g.6593265G>A	NCBI36
NG_008653.1:g.9004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1136C>T	ENSP00000507321.1:p.Pro379Leu
ENST00000299427.12:c.1250C>T MANE Select	ENSP00000299427.6:p.Pro417Leu
ENST00000436873.7:c.487C>T
ENST00000524924.2:n.370C>T
ENST00000533371.6:c.521C>T	ENSP00000437066.1:p.Pro174Leu
ENST00000642892.1:c.521C>T	ENSP00000494165.1:p.Pro174Leu
ENST00000643342.1:c.323C>T
ENST00000643439.1:c.*990C>T	ENSP00000495849.1:n.*990C>T
ENST00000643479.1:n.1436C>T
ENST00000643516.1:c.759C>T
ENST00000644218.1:c.1061C>T	ENSP00000493574.1:p.Pro354Leu
ENST00000644683.1:c.*703C>T	ENSP00000494085.1:n.*703C>T
ENST00000644810.1:c.971C>T	ENSP00000495895.1:p.Pro324Leu
ENST00000644831.1:n.1426C>T
ENST00000644933.1:c.*116C>T	ENSP00000496133.1:n.*116C>T
ENST00000645285.1:c.*116C>T	ENSP00000495058.1:n.*116C>T
ENST00000645331.1:n.2455C>T
ENST00000645620.1:c.521C>T	ENSP00000493657.1:p.Pro174Leu
ENST00000646691.1:n.1025C>T
ENST00000646777.1:n.1583C>T
ENST00000647016.1:n.1730C>T
ENST00000647152.1:c.521C>T	ENSP00000495893.1:p.Pro174Leu
ENST00000647209.1:c.*1119C>T	ENSP00000495558.1:n.*1119C>T
ENST00000647346.1:n.2270C>T
ENST00000299427.10:c.1250C>T	ENSP00000299427.6:p.Pro417Leu
ENST00000524611.1:n.16C>T
ENST00000524924.1:n.205C>T
ENST00000532191.1:n.303C>T
ENST00000533371.5:c.521C>T	ENSP00000437066.1:p.Pro174Leu
ENST00000611494.4:c.1250C>T	ENSP00000484546.1:p.Pro417Leu
NM_000391.3:c.1250C>T	NP_000382.3:p.Pro417Leu
NM_000391.4:c.1250C>T MANE Select	NP_000382.3:p.Pro417Leu