Canonical Allele Identifier: CA5858792

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305509
• ClinVar RCV Id: RCV000259663 ; RCV000632726 ; RCV002222484 ; RCV002502207
• dbSNP Id: rs141482368
• ExAC: 11:6637588 T / G
• gnomAD v2: 11-6637588-T-G
• gnomAD v3: 11-6616357-T-G
• gnomAD v4: 11-6616357-T-G
• MyVariant Identifiers: chr11:g.6637588T>G (hg19) ; chr11:g.6616357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616357T>G , CM000673.2:g.6616357T>G	GRCh38
NC_000011.9:g.6637588T>G , CM000673.1:g.6637588T>G	GRCh37
NC_000011.8:g.6594164T>G	NCBI36
NG_008653.1:g.8105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.919A>C	ENSP00000507321.1:p.Met307Leu
ENST00000299427.12:c.1033A>C MANE Select	ENSP00000299427.6:p.Met345Leu
ENST00000436873.7:c.313-283A>C
ENST00000533371.6:c.304A>C	ENSP00000437066.1:p.Met102Leu
ENST00000642892.1:c.304A>C	ENSP00000494165.1:p.Met102Leu
ENST00000643342.1:c.123A>C
ENST00000643439.1:c.*773A>C	ENSP00000495849.1:n.*773A>C
ENST00000643479.1:n.1219A>C
ENST00000643516.1:c.542A>C
ENST00000644218.1:c.887-283A>C	ENSP00000493574.1:n.887-283A>C
ENST00000644683.1:c.*486A>C	ENSP00000494085.1:n.*486A>C
ENST00000644810.1:c.754A>C	ENSP00000495895.1:p.Met252Leu
ENST00000644831.1:n.1209A>C
ENST00000644933.1:c.304A>C	ENSP00000496133.1:p.Met102Leu
ENST00000645285.1:c.158-283A>C	ENSP00000495058.1:n.158-283A>C
ENST00000645331.1:n.1556A>C
ENST00000645620.1:c.304A>C	ENSP00000493657.1:p.Met102Leu
ENST00000646691.1:n.126A>C
ENST00000646777.1:n.1366A>C
ENST00000647016.1:n.1513A>C
ENST00000647152.1:c.304A>C	ENSP00000495893.1:p.Met102Leu
ENST00000647209.1:c.*902A>C	ENSP00000495558.1:n.*902A>C
ENST00000647346.1:n.2053A>C
ENST00000299427.10:c.1033A>C	ENSP00000299427.6:p.Met345Leu
ENST00000533371.5:c.304A>C	ENSP00000437066.1:p.Met102Leu
ENST00000611494.4:c.1033A>C	ENSP00000484546.1:p.Met345Leu
NM_000391.3:c.1033A>C	NP_000382.3:p.Met345Leu
NM_000391.4:c.1033A>C MANE Select	NP_000382.3:p.Met345Leu