Canonical Allele Identifier: CA319194

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207584
• ClinVar RCV Id: RCV000189777 ; RCV001102831 ; RCV003352801
• dbSNP Id: rs796053441
• gnomAD v2: 11-6637731-C-T
• gnomAD v3: 11-6616500-C-T
• gnomAD v4: 11-6616500-C-T
• MyVariant Identifiers: chr11:g.6637731C>T (hg19) ; chr11:g.6616500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616500C>T , CM000673.2:g.6616500C>T	GRCh38
NC_000011.9:g.6637731C>T , CM000673.1:g.6637731C>T	GRCh37
NC_000011.8:g.6594307C>T	NCBI36
NG_008653.1:g.7962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.776G>A	ENSP00000507321.1:p.Arg259Gln
ENST00000299427.12:c.890G>A MANE Select	ENSP00000299427.6:p.Arg297Gln
ENST00000436873.7:c.313-426G>A
ENST00000530040.2:n.483G>A
ENST00000533371.6:c.161G>A	ENSP00000437066.1:p.Arg54Gln
ENST00000642892.1:c.161G>A	ENSP00000494165.1:p.Arg54Gln
ENST00000643439.1:c.*630G>A	ENSP00000495849.1:n.*630G>A
ENST00000643479.1:n.1076G>A
ENST00000643516.1:c.399G>A
ENST00000644218.1:c.886+161G>A	ENSP00000493574.1:n.886+161G>A
ENST00000644683.1:c.*343G>A	ENSP00000494085.1:n.*343G>A
ENST00000644810.1:c.611G>A	ENSP00000495895.1:p.Arg204Gln
ENST00000644831.1:n.1066G>A
ENST00000644933.1:c.161G>A	ENSP00000496133.1:p.Arg54Gln
ENST00000645285.1:c.157+161G>A	ENSP00000495058.1:n.157+161G>A
ENST00000645331.1:n.1413G>A
ENST00000645620.1:c.161G>A	ENSP00000493657.1:p.Arg54Gln
ENST00000646777.1:n.1223G>A
ENST00000647016.1:n.1370G>A
ENST00000647152.1:c.161G>A	ENSP00000495893.1:p.Arg54Gln
ENST00000647209.1:c.*759G>A	ENSP00000495558.1:n.*759G>A
ENST00000647346.1:n.1910G>A
ENST00000299427.10:c.890G>A	ENSP00000299427.6:p.Arg297Gln
ENST00000436873.6:c.454G>A	ENSP00000398136.2:p.Gly152Ser
ENST00000533371.5:c.161G>A	ENSP00000437066.1:p.Arg54Gln
ENST00000611494.4:c.890G>A	ENSP00000484546.1:p.Arg297Gln
NM_000391.3:c.890G>A	NP_000382.3:p.Arg297Gln
NM_000391.4:c.890G>A MANE Select	NP_000382.3:p.Arg297Gln