Canonical Allele Identifier: CA379472750

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615286-G-A
• MyVariant Identifiers: chr11:g.6636517G>A (hg19) ; chr11:g.6615286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615286G>A , CM000673.2:g.6615286G>A	GRCh38
NC_000011.9:g.6636517G>A , CM000673.1:g.6636517G>A	GRCh37
NC_000011.8:g.6593093G>A	NCBI36
NG_008653.1:g.9176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1196C>T	ENSP00000507321.1:p.Pro399Leu
ENST00000299427.12:c.1310C>T MANE Select	ENSP00000299427.6:p.Pro437Leu
ENST00000524611.2:n.170C>T
ENST00000524924.2:n.430C>T
ENST00000533371.6:c.581C>T	ENSP00000437066.1:p.Pro194Leu
ENST00000642892.1:c.581C>T	ENSP00000494165.1:p.Pro194Leu
ENST00000643342.1:c.383C>T
ENST00000643439.1:c.*1050C>T	ENSP00000495849.1:n.*1050C>T
ENST00000643479.1:n.1496C>T
ENST00000643516.1:c.819C>T
ENST00000644218.1:c.1121C>T	ENSP00000493574.1:p.Pro374Leu
ENST00000644683.1:c.*763C>T	ENSP00000494085.1:n.*763C>T
ENST00000644810.1:c.1031C>T	ENSP00000495895.1:p.Pro344Leu
ENST00000644831.1:n.1486C>T
ENST00000644933.1:c.*176C>T	ENSP00000496133.1:n.*176C>T
ENST00000645285.1:c.*176C>T	ENSP00000495058.1:n.*176C>T
ENST00000645331.1:n.2515C>T
ENST00000645620.1:c.581C>T	ENSP00000493657.1:p.Pro194Leu
ENST00000646691.1:n.1197C>T
ENST00000646777.1:n.1643C>T
ENST00000647016.1:n.1790C>T
ENST00000647152.1:c.581C>T	ENSP00000495893.1:p.Pro194Leu
ENST00000647209.1:c.*1179C>T	ENSP00000495558.1:n.*1179C>T
ENST00000647346.1:n.2330C>T
ENST00000299427.10:c.1310C>T	ENSP00000299427.6:p.Pro437Leu
ENST00000524611.1:n.188C>T
ENST00000524924.1:n.265C>T
ENST00000532191.1:n.363C>T
ENST00000533371.5:c.581C>T	ENSP00000437066.1:p.Pro194Leu
ENST00000611494.4:c.1310C>T	ENSP00000484546.1:p.Pro437Leu
NM_000391.3:c.1310C>T	NP_000382.3:p.Pro437Leu
NM_000391.4:c.1310C>T MANE Select	NP_000382.3:p.Pro437Leu