Canonical Allele Identifier: CA379473156

Gene: TPP1

Linked Data

• dbSNP Id: rs1282555591
• gnomAD v2: 11-6636779-G-A
• gnomAD v4: 11-6615548-G-A
• MyVariant Identifiers: chr11:g.6636779G>A (hg19) ; chr11:g.6615548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615548G>A , CM000673.2:g.6615548G>A	GRCh38
NC_000011.9:g.6636779G>A , CM000673.1:g.6636779G>A	GRCh37
NC_000011.8:g.6593355G>A	NCBI36
NG_008653.1:g.8914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1046C>T	ENSP00000507321.1:p.Thr349Ile
ENST00000299427.12:c.1160C>T MANE Select	ENSP00000299427.6:p.Thr387Ile
ENST00000436873.7:c.397C>T
ENST00000524924.2:n.280C>T
ENST00000533371.6:c.431C>T	ENSP00000437066.1:p.Thr144Ile
ENST00000642892.1:c.431C>T	ENSP00000494165.1:p.Thr144Ile
ENST00000643342.1:c.236-3C>T
ENST00000643439.1:c.*900C>T	ENSP00000495849.1:n.*900C>T
ENST00000643479.1:n.1346C>T
ENST00000643516.1:c.669C>T
ENST00000644218.1:c.971C>T	ENSP00000493574.1:p.Thr324Ile
ENST00000644683.1:c.*613C>T	ENSP00000494085.1:n.*613C>T
ENST00000644810.1:c.881C>T	ENSP00000495895.1:p.Thr294Ile
ENST00000644831.1:n.1336C>T
ENST00000644933.1:c.*26C>T	ENSP00000496133.1:n.*26C>T
ENST00000645285.1:c.*26C>T	ENSP00000495058.1:n.*26C>T
ENST00000645331.1:n.2365C>T
ENST00000645620.1:c.431C>T	ENSP00000493657.1:p.Thr144Ile
ENST00000646691.1:n.935C>T
ENST00000646777.1:n.1493C>T
ENST00000647016.1:n.1640C>T
ENST00000647152.1:c.431C>T	ENSP00000495893.1:p.Thr144Ile
ENST00000647209.1:c.*1029C>T	ENSP00000495558.1:n.*1029C>T
ENST00000647346.1:n.2180C>T
ENST00000299427.10:c.1160C>T	ENSP00000299427.6:p.Thr387Ile
ENST00000524924.1:n.115C>T
ENST00000532191.1:n.213C>T
ENST00000533371.5:c.431C>T	ENSP00000437066.1:p.Thr144Ile
ENST00000611494.4:c.1160C>T	ENSP00000484546.1:p.Thr387Ile
NM_000391.3:c.1160C>T	NP_000382.3:p.Thr387Ile
NM_000391.4:c.1160C>T MANE Select	NP_000382.3:p.Thr387Ile