Canonical Allele Identifier: CA217323767

Gene: TPP1

Linked Data

• dbSNP Id: rs978291900
• gnomAD v2: 11-6638471-C-T
• gnomAD v3: 11-6617240-C-T
• gnomAD v4: 11-6617240-C-T
• MyVariant Identifiers: chr11:g.6638471C>T (hg19) ; chr11:g.6617240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617240C>T , CM000673.2:g.6617240C>T	GRCh38
NC_000011.9:g.6638471C>T , CM000673.1:g.6638471C>T	GRCh37
NC_000011.8:g.6595047C>T	NCBI36
NG_008653.1:g.7222G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+61G>A	ENSP00000507321.1:n.394+61G>A
ENST00000299427.12:c.508+61G>A MANE Select	ENSP00000299427.6:n.508+61G>A
ENST00000428886.7:n.657G>A
ENST00000436873.7:c.312+61G>A
ENST00000524788.2:n.1581G>A
ENST00000524903.2:n.1697G>A
ENST00000528571.6:c.*309G>A	ENSP00000434647.1:n.*309G>A
ENST00000528807.2:n.164+61G>A
ENST00000530040.2:n.479+119G>A
ENST00000533371.6:c.-222+61G>A	ENSP00000437066.1:n.-222+61G>A
ENST00000534644.6:n.457-87G>A
ENST00000642892.1:c.-221-87G>A	ENSP00000494165.1:n.-221-87G>A
ENST00000643439.1:c.*248+61G>A	ENSP00000495849.1:n.*248+61G>A
ENST00000643479.1:n.537+61G>A
ENST00000643516.1:c.395+61G>A
ENST00000644151.1:n.1861G>A
ENST00000644218.1:c.508+61G>A	ENSP00000493574.1:n.508+61G>A
ENST00000644683.1:c.451-87G>A	ENSP00000494085.1:n.451-87G>A
ENST00000644810.1:c.230-87G>A	ENSP00000495895.1:n.230-87G>A
ENST00000644831.1:n.598G>A
ENST00000644933.1:c.-222+61G>A	ENSP00000496133.1:n.-222+61G>A
ENST00000645020.1:n.1597G>A
ENST00000645285.1:c.-222+61G>A	ENSP00000495058.1:n.-222+61G>A
ENST00000645331.1:n.788G>A
ENST00000645620.1:c.-221-87G>A	ENSP00000493657.1:n.-221-87G>A
ENST00000646777.1:n.598G>A
ENST00000647016.1:n.902G>A
ENST00000647152.1:c.-222+61G>A	ENSP00000495893.1:n.-222+61G>A
ENST00000647209.1:c.*377+61G>A	ENSP00000495558.1:n.*377+61G>A
ENST00000647346.1:n.1528+61G>A
ENST00000299427.10:c.508+61G>A	ENSP00000299427.6:n.508+61G>A
ENST00000428886.6:n.591G>A
ENST00000436873.6:c.450+119G>A	ENSP00000398136.2:n.450+119G>A
ENST00000524788.1:n.122G>A
ENST00000528571.5:c.*248+61G>A	ENSP00000434647.1:n.*248+61G>A
ENST00000533371.5:c.-222+61G>A	ENSP00000437066.1:n.-222+61G>A
ENST00000534644.5:n.493+61G>A
ENST00000611494.4:c.508+61G>A	ENSP00000484546.1:n.508+61G>A
NM_000391.3:c.508+61G>A	NP_000382.3:n.508+61G>A
NM_000391.4:c.508+61G>A MANE Select	NP_000382.3:n.508+61G>A