Canonical Allele Identifier: CA217323807

Gene: TPP1

Linked Data

• dbSNP Id: rs745489609
• gnomAD v4: 11-6617273-C-T
• MyVariant Identifiers: chr11:g.6638504C>T (hg19) ; chr11:g.6617273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617273C>T , CM000673.2:g.6617273C>T	GRCh38
NC_000011.9:g.6638504C>T , CM000673.1:g.6638504C>T	GRCh37
NC_000011.8:g.6595080C>T	NCBI36
NG_008653.1:g.7189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+28G>A	ENSP00000507321.1:n.394+28G>A
ENST00000299427.12:c.508+28G>A MANE Select	ENSP00000299427.6:n.508+28G>A
ENST00000428886.7:n.624G>A
ENST00000436873.7:c.312+28G>A
ENST00000524788.2:n.1548G>A
ENST00000524903.2:n.1664G>A
ENST00000528571.6:c.*276G>A	ENSP00000434647.1:n.*276G>A
ENST00000528807.2:n.164+28G>A
ENST00000530040.2:n.479+86G>A
ENST00000533371.6:c.-222+28G>A	ENSP00000437066.1:n.-222+28G>A
ENST00000534644.6:n.456+81G>A
ENST00000642892.1:c.-222+81G>A	ENSP00000494165.1:n.-222+81G>A
ENST00000643439.1:c.*248+28G>A	ENSP00000495849.1:n.*248+28G>A
ENST00000643479.1:n.537+28G>A
ENST00000643516.1:c.395+28G>A
ENST00000644151.1:n.1828G>A
ENST00000644218.1:c.508+28G>A	ENSP00000493574.1:n.508+28G>A
ENST00000644683.1:c.450+86G>A	ENSP00000494085.1:n.450+86G>A
ENST00000644810.1:c.230-120G>A	ENSP00000495895.1:n.230-120G>A
ENST00000644831.1:n.565G>A
ENST00000644933.1:c.-222+28G>A	ENSP00000496133.1:n.-222+28G>A
ENST00000645020.1:n.1564G>A
ENST00000645285.1:c.-222+28G>A	ENSP00000495058.1:n.-222+28G>A
ENST00000645331.1:n.755G>A
ENST00000645620.1:c.-222+86G>A	ENSP00000493657.1:n.-222+86G>A
ENST00000646777.1:n.565G>A
ENST00000647016.1:n.869G>A
ENST00000647152.1:c.-222+28G>A	ENSP00000495893.1:n.-222+28G>A
ENST00000647209.1:c.*377+28G>A	ENSP00000495558.1:n.*377+28G>A
ENST00000647346.1:n.1528+28G>A
ENST00000299427.10:c.508+28G>A	ENSP00000299427.6:n.508+28G>A
ENST00000428886.6:n.558G>A
ENST00000436873.6:c.450+86G>A	ENSP00000398136.2:n.450+86G>A
ENST00000524788.1:n.89G>A
ENST00000528571.5:c.*248+28G>A	ENSP00000434647.1:n.*248+28G>A
ENST00000533371.5:c.-222+28G>A	ENSP00000437066.1:n.-222+28G>A
ENST00000534644.5:n.493+28G>A
ENST00000611494.4:c.508+28G>A	ENSP00000484546.1:n.508+28G>A
NM_000391.3:c.508+28G>A	NP_000382.3:n.508+28G>A
NM_000391.4:c.508+28G>A MANE Select	NP_000382.3:n.508+28G>A