Canonical Allele Identifier: CA217323863

Gene: TPP1

Linked Data

• dbSNP Id: rs370920825
• gnomAD v2: 11-6638538-C-A
• gnomAD v4: 11-6617307-C-A
• MyVariant Identifiers: chr11:g.6638538C>A (hg19) ; chr11:g.6617307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617307C>A , CM000673.2:g.6617307C>A	GRCh38
NC_000011.9:g.6638538C>A , CM000673.1:g.6638538C>A	GRCh37
NC_000011.8:g.6595114C>A	NCBI36
NG_008653.1:g.7155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.388G>T	ENSP00000507321.1:p.Asp130Tyr
ENST00000299427.12:c.502G>T MANE Select	ENSP00000299427.6:p.Asp168Tyr
ENST00000428886.7:n.590G>T
ENST00000436873.7:c.306G>T
ENST00000524788.2:n.1514G>T
ENST00000524903.2:n.1630G>T
ENST00000528571.6:c.*242G>T	ENSP00000434647.1:n.*242G>T
ENST00000528807.2:n.158G>T
ENST00000530040.2:n.479+52G>T
ENST00000533371.6:c.-228G>T	ENSP00000437066.1:n.-228G>T
ENST00000534644.6:n.456+47G>T
ENST00000642892.1:c.-222+47G>T	ENSP00000494165.1:n.-222+47G>T
ENST00000643439.1:c.*242G>T	ENSP00000495849.1:n.*242G>T
ENST00000643479.1:n.531G>T
ENST00000643516.1:c.389G>T
ENST00000644151.1:n.1794G>T
ENST00000644218.1:c.502G>T	ENSP00000493574.1:p.Asp168Tyr
ENST00000644683.1:c.450+52G>T	ENSP00000494085.1:n.450+52G>T
ENST00000644810.1:c.230-154G>T	ENSP00000495895.1:n.230-154G>T
ENST00000644831.1:n.531G>T
ENST00000644933.1:c.-228G>T	ENSP00000496133.1:n.-228G>T
ENST00000645020.1:n.1530G>T
ENST00000645285.1:c.-228G>T	ENSP00000495058.1:n.-228G>T
ENST00000645331.1:n.721G>T
ENST00000645620.1:c.-222+52G>T	ENSP00000493657.1:n.-222+52G>T
ENST00000646777.1:n.531G>T
ENST00000647016.1:n.835G>T
ENST00000647152.1:c.-228G>T	ENSP00000495893.1:n.-228G>T
ENST00000647209.1:c.*371G>T	ENSP00000495558.1:n.*371G>T
ENST00000647346.1:n.1522G>T
ENST00000299427.10:c.502G>T	ENSP00000299427.6:p.Asp168Tyr
ENST00000428886.6:n.524G>T
ENST00000436873.6:c.450+52G>T	ENSP00000398136.2:n.450+52G>T
ENST00000524788.1:n.55G>T
ENST00000528571.5:c.*242G>T	ENSP00000434647.1:n.*242G>T
ENST00000533371.5:c.-228G>T	ENSP00000437066.1:n.-228G>T
ENST00000534644.5:n.487G>T
ENST00000611494.4:c.502G>T	ENSP00000484546.1:p.Asp168Tyr
NM_000391.3:c.502G>T	NP_000382.3:p.Asp168Tyr
NM_000391.4:c.502G>T MANE Select	NP_000382.3:p.Asp168Tyr