Canonical Allele Identifier: CA379472822

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615322-G-A
• MyVariant Identifiers: chr11:g.6636553G>A (hg19) ; chr11:g.6615322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615322G>A , CM000673.2:g.6615322G>A	GRCh38
NC_000011.9:g.6636553G>A , CM000673.1:g.6636553G>A	GRCh37
NC_000011.8:g.6593129G>A	NCBI36
NG_008653.1:g.9140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1160C>T	ENSP00000507321.1:p.Ala387Val
ENST00000299427.12:c.1274C>T MANE Select	ENSP00000299427.6:p.Ala425Val
ENST00000436873.7:c.511C>T
ENST00000524611.2:n.134C>T
ENST00000524924.2:n.394C>T
ENST00000533371.6:c.545C>T	ENSP00000437066.1:p.Ala182Val
ENST00000642892.1:c.545C>T	ENSP00000494165.1:p.Ala182Val
ENST00000643342.1:c.347C>T
ENST00000643439.1:c.*1014C>T	ENSP00000495849.1:n.*1014C>T
ENST00000643479.1:n.1460C>T
ENST00000643516.1:c.783C>T
ENST00000644218.1:c.1085C>T	ENSP00000493574.1:p.Ala362Val
ENST00000644683.1:c.*727C>T	ENSP00000494085.1:n.*727C>T
ENST00000644810.1:c.995C>T	ENSP00000495895.1:p.Ala332Val
ENST00000644831.1:n.1450C>T
ENST00000644933.1:c.*140C>T	ENSP00000496133.1:n.*140C>T
ENST00000645285.1:c.*140C>T	ENSP00000495058.1:n.*140C>T
ENST00000645331.1:n.2479C>T
ENST00000645620.1:c.545C>T	ENSP00000493657.1:p.Ala182Val
ENST00000646691.1:n.1161C>T
ENST00000646777.1:n.1607C>T
ENST00000647016.1:n.1754C>T
ENST00000647152.1:c.545C>T	ENSP00000495893.1:p.Ala182Val
ENST00000647209.1:c.*1143C>T	ENSP00000495558.1:n.*1143C>T
ENST00000647346.1:n.2294C>T
ENST00000299427.10:c.1274C>T	ENSP00000299427.6:p.Ala425Val
ENST00000524611.1:n.152C>T
ENST00000524924.1:n.229C>T
ENST00000532191.1:n.327C>T
ENST00000533371.5:c.545C>T	ENSP00000437066.1:p.Ala182Val
ENST00000611494.4:c.1274C>T	ENSP00000484546.1:p.Ala425Val
NM_000391.3:c.1274C>T	NP_000382.3:p.Ala425Val
NM_000391.4:c.1274C>T MANE Select	NP_000382.3:p.Ala425Val