Canonical Allele Identifier: CA5858831

Gene: TPP1

Linked Data

• ClinVar Variation Id: 527742
• ClinVar RCV Id: RCV001829779 ; RCV002528858
• dbSNP Id: rs561854371
• ExAC: 11:6637970 C / T
• gnomAD v2: 11-6637970-C-T
• gnomAD v3: 11-6616739-C-T
• gnomAD v4: 11-6616739-C-T
• MyVariant Identifiers: chr11:g.6637970C>T (hg19) ; chr11:g.6616739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616739C>T , CM000673.2:g.6616739C>T	GRCh38
NC_000011.9:g.6637970C>T , CM000673.1:g.6637970C>T	GRCh37
NC_000011.8:g.6594546C>T	NCBI36
NG_008653.1:g.7723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.694G>A	ENSP00000507321.1:p.Gly232Arg
ENST00000299427.12:c.808G>A MANE Select	ENSP00000299427.6:p.Gly270Arg
ENST00000436873.7:c.312+562G>A
ENST00000524788.2:n.1967G>A
ENST00000524903.2:n.2083G>A
ENST00000528807.2:n.464G>A
ENST00000530040.2:n.480-236G>A
ENST00000533371.6:c.79G>A	ENSP00000437066.1:p.Gly27Arg
ENST00000642892.1:c.79G>A	ENSP00000494165.1:p.Gly27Arg
ENST00000643439.1:c.*548G>A	ENSP00000495849.1:n.*548G>A
ENST00000643479.1:n.837G>A
ENST00000643516.1:c.396-236G>A
ENST00000644151.1:n.2247G>A
ENST00000644218.1:c.808G>A	ENSP00000493574.1:p.Gly270Arg
ENST00000644683.1:c.*261G>A	ENSP00000494085.1:n.*261G>A
ENST00000644810.1:c.529G>A	ENSP00000495895.1:p.Gly177Arg
ENST00000644831.1:n.984G>A
ENST00000644933.1:c.79G>A	ENSP00000496133.1:p.Gly27Arg
ENST00000645020.1:n.2098G>A
ENST00000645285.1:c.79G>A	ENSP00000495058.1:p.Gly27Arg
ENST00000645331.1:n.1174G>A
ENST00000645620.1:c.79G>A	ENSP00000493657.1:p.Gly27Arg
ENST00000646777.1:n.984G>A
ENST00000647016.1:n.1288G>A
ENST00000647152.1:c.79G>A	ENSP00000495893.1:p.Gly27Arg
ENST00000647209.1:c.*677G>A	ENSP00000495558.1:n.*677G>A
ENST00000647346.1:n.1828G>A
ENST00000299427.10:c.808G>A	ENSP00000299427.6:p.Gly270Arg
ENST00000436873.6:c.451-236G>A	ENSP00000398136.2:n.451-236G>A
ENST00000524788.1:n.508G>A
ENST00000528807.1:n.358G>A
ENST00000533371.5:c.79G>A	ENSP00000437066.1:p.Gly27Arg
ENST00000611494.4:c.808G>A	ENSP00000484546.1:p.Gly270Arg
NM_000391.3:c.808G>A	NP_000382.3:p.Gly270Arg
NM_000391.4:c.808G>A MANE Select	NP_000382.3:p.Gly270Arg