Canonical Allele Identifier: CA379475312

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616980-C-T
• MyVariant Identifiers: chr11:g.6638211C>T (hg19) ; chr11:g.6616980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616980C>T , CM000673.2:g.6616980C>T	GRCh38
NC_000011.9:g.6638211C>T , CM000673.1:g.6638211C>T	GRCh37
NC_000011.8:g.6594787C>T	NCBI36
NG_008653.1:g.7482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.568G>A	ENSP00000507321.1:p.Ala190Thr
ENST00000299427.12:c.682G>A MANE Select	ENSP00000299427.6:p.Ala228Thr
ENST00000436873.7:c.312+321G>A
ENST00000524788.2:n.1841G>A
ENST00000524903.2:n.1957G>A
ENST00000528807.2:n.338G>A
ENST00000530040.2:n.479+379G>A
ENST00000533371.6:c.-48G>A	ENSP00000437066.1:n.-48G>A
ENST00000534644.6:n.630G>A
ENST00000642892.1:c.-48G>A	ENSP00000494165.1:n.-48G>A
ENST00000643439.1:c.*422G>A	ENSP00000495849.1:n.*422G>A
ENST00000643479.1:n.711G>A
ENST00000643516.1:c.395+321G>A
ENST00000644151.1:n.2121G>A
ENST00000644218.1:c.682G>A	ENSP00000493574.1:p.Ala228Thr
ENST00000644683.1:c.*135G>A	ENSP00000494085.1:n.*135G>A
ENST00000644810.1:c.403G>A	ENSP00000495895.1:p.Ala135Thr
ENST00000644831.1:n.858G>A
ENST00000644933.1:c.-48G>A	ENSP00000496133.1:n.-48G>A
ENST00000645020.1:n.1857G>A
ENST00000645285.1:c.-48G>A	ENSP00000495058.1:n.-48G>A
ENST00000645331.1:n.1048G>A
ENST00000645620.1:c.-48G>A	ENSP00000493657.1:n.-48G>A
ENST00000646777.1:n.858G>A
ENST00000647016.1:n.1162G>A
ENST00000647152.1:c.-48G>A	ENSP00000495893.1:n.-48G>A
ENST00000647209.1:c.*551G>A	ENSP00000495558.1:n.*551G>A
ENST00000647346.1:n.1702G>A
ENST00000299427.10:c.682G>A	ENSP00000299427.6:p.Ala228Thr
ENST00000436873.6:c.450+379G>A	ENSP00000398136.2:n.450+379G>A
ENST00000524788.1:n.382G>A
ENST00000528807.1:n.232G>A
ENST00000533371.5:c.-48G>A	ENSP00000437066.1:n.-48G>A
ENST00000611494.4:c.682G>A	ENSP00000484546.1:p.Ala228Thr
NM_000391.3:c.682G>A	NP_000382.3:p.Ala228Thr
NM_000391.4:c.682G>A MANE Select	NP_000382.3:p.Ala228Thr