Canonical Allele Identifier: CA319144

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207558
• ClinVar RCV Id: RCV000189748 ; RCV000726300 ; RCV001274548 ; RCV003224212 ; RCV002314771
• dbSNP Id: rs142163063
• ExAC: 11:6640625 G / T
• gnomAD v2: 11-6640625-G-T
• gnomAD v3: 11-6619394-G-T
• gnomAD v4: 11-6619394-G-T
• MyVariant Identifiers: chr11:g.6640625G>T (hg19) ; chr11:g.6619394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6619394G>T , CM000673.2:g.6619394G>T	GRCh38
NC_000011.9:g.6640625G>T , CM000673.1:g.6640625G>T	GRCh37
NC_000011.8:g.6597201G>T	NCBI36
NG_008653.1:g.5068C>A
NG_033858.1:g.41456C>A
NG_033858.2:g.41456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.22+12C>A	ENSP00000507321.1:n.22+12C>A
ENST00000299427.12:c.7C>A MANE Select	ENSP00000299427.6:p.Leu3Ile
ENST00000524788.2:n.20C>A
ENST00000524903.2:n.20C>A
ENST00000528571.6:c.7C>A	ENSP00000434647.1:p.Leu3Ile
ENST00000528657.2:c.7C>A	ENSP00000435001.1:p.Leu3Ile
ENST00000530040.2:n.36C>A
ENST00000531754.2:c.7C>A	ENSP00000493706.1:p.Leu3Ile
ENST00000533371.6:c.-839C>A	ENSP00000437066.1:n.-839C>A
ENST00000534644.6:n.8C>A
ENST00000643439.1:c.7C>A	ENSP00000495849.1:p.Leu3Ile
ENST00000643479.1:n.36C>A
ENST00000644151.1:n.20C>A
ENST00000644218.1:c.7C>A	ENSP00000493574.1:p.Leu3Ile
ENST00000644683.1:c.7C>A	ENSP00000494085.1:p.Leu3Ile
ENST00000644810.1:c.7C>A	ENSP00000495895.1:p.Leu3Ile
ENST00000644831.1:n.36C>A
ENST00000645020.1:n.36C>A
ENST00000645331.1:n.29C>A
ENST00000646777.1:n.36C>A
ENST00000647152.1:c.-699C>A	ENSP00000495893.1:n.-699C>A
ENST00000647209.1:c.7C>A	ENSP00000495558.1:p.Leu3Ile
ENST00000647346.1:n.28C>A
ENST00000299427.10:c.7C>A	ENSP00000299427.6:p.Leu3Ile
ENST00000428886.6:n.29C>A
ENST00000436873.6:c.7C>A	ENSP00000398136.2:p.Leu3Ile
ENST00000528571.5:c.7C>A	ENSP00000434647.1:p.Leu3Ile
ENST00000528657.1:c.7C>A	ENSP00000435001.1:p.Leu3Ile
ENST00000528917.1:n.28C>A
ENST00000530040.1:n.3C>A
ENST00000531754.1:n.55C>A
ENST00000534644.5:n.16C>A
ENST00000611494.4:c.7C>A	ENSP00000484546.1:p.Leu3Ile
NM_000391.3:c.7C>A	NP_000382.3:p.Leu3Ile
NM_000391.4:c.7C>A MANE Select	NP_000382.3:p.Leu3Ile