Canonical Allele Identifier: CA5858934

Gene: TPP1

Linked Data

• ClinVar Variation Id: 558856
• ClinVar RCV Id: RCV000675463 ; RCV001538072 ; RCV001538073
• dbSNP Id: rs1800738
• ExAC: 11:6638506 A / T
• gnomAD v2: 11-6638506-A-T
• gnomAD v3: 11-6617275-A-T
• gnomAD v4: 11-6617275-A-T
• MyVariant Identifiers: chr11:g.6638506A>T (hg19) ; chr11:g.6617275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617275A>T , CM000673.2:g.6617275A>T	GRCh38
NC_000011.9:g.6638506A>T , CM000673.1:g.6638506A>T	GRCh37
NC_000011.8:g.6595082A>T	NCBI36
NG_008653.1:g.7187T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+26T>A	ENSP00000507321.1:n.394+26T>A
ENST00000299427.12:c.508+26T>A MANE Select	ENSP00000299427.6:n.508+26T>A
ENST00000428886.7:n.622T>A
ENST00000436873.7:c.312+26T>A
ENST00000524788.2:n.1546T>A
ENST00000524903.2:n.1662T>A
ENST00000528571.6:c.*274T>A	ENSP00000434647.1:n.*274T>A
ENST00000528807.2:n.164+26T>A
ENST00000530040.2:n.479+84T>A
ENST00000533371.6:c.-222+26T>A	ENSP00000437066.1:n.-222+26T>A
ENST00000534644.6:n.456+79T>A
ENST00000642892.1:c.-222+79T>A	ENSP00000494165.1:n.-222+79T>A
ENST00000643439.1:c.*248+26T>A	ENSP00000495849.1:n.*248+26T>A
ENST00000643479.1:n.537+26T>A
ENST00000643516.1:c.395+26T>A
ENST00000644151.1:n.1826T>A
ENST00000644218.1:c.508+26T>A	ENSP00000493574.1:n.508+26T>A
ENST00000644683.1:c.450+84T>A	ENSP00000494085.1:n.450+84T>A
ENST00000644810.1:c.230-122T>A	ENSP00000495895.1:n.230-122T>A
ENST00000644831.1:n.563T>A
ENST00000644933.1:c.-222+26T>A	ENSP00000496133.1:n.-222+26T>A
ENST00000645020.1:n.1562T>A
ENST00000645285.1:c.-222+26T>A	ENSP00000495058.1:n.-222+26T>A
ENST00000645331.1:n.753T>A
ENST00000645620.1:c.-222+84T>A	ENSP00000493657.1:n.-222+84T>A
ENST00000646777.1:n.563T>A
ENST00000647016.1:n.867T>A
ENST00000647152.1:c.-222+26T>A	ENSP00000495893.1:n.-222+26T>A
ENST00000647209.1:c.*377+26T>A	ENSP00000495558.1:n.*377+26T>A
ENST00000647346.1:n.1528+26T>A
ENST00000299427.10:c.508+26T>A	ENSP00000299427.6:n.508+26T>A
ENST00000428886.6:n.556T>A
ENST00000436873.6:c.450+84T>A	ENSP00000398136.2:n.450+84T>A
ENST00000524788.1:n.87T>A
ENST00000528571.5:c.*248+26T>A	ENSP00000434647.1:n.*248+26T>A
ENST00000533371.5:c.-222+26T>A	ENSP00000437066.1:n.-222+26T>A
ENST00000534644.5:n.493+26T>A
ENST00000611494.4:c.508+26T>A	ENSP00000484546.1:n.508+26T>A
NM_000391.3:c.508+26T>A	NP_000382.3:n.508+26T>A
NM_000391.4:c.508+26T>A MANE Select	NP_000382.3:n.508+26T>A