Canonical Allele Identifier: CA379473143

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2056232
• ClinVar RCV Id: RCV002938451
• dbSNP Id: rs1855567515
• gnomAD v4: 11-6615545-A-G
• MyVariant Identifiers: chr11:g.6636776A>G (hg19) ; chr11:g.6615545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615545A>G , CM000673.2:g.6615545A>G	GRCh38
NC_000011.9:g.6636776A>G , CM000673.1:g.6636776A>G	GRCh37
NC_000011.8:g.6593352A>G	NCBI36
NG_008653.1:g.8917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1049T>C	ENSP00000507321.1:p.Val350Ala
ENST00000299427.12:c.1163T>C MANE Select	ENSP00000299427.6:p.Val388Ala
ENST00000436873.7:c.400T>C
ENST00000524924.2:n.283T>C
ENST00000533371.6:c.434T>C	ENSP00000437066.1:p.Val145Ala
ENST00000642892.1:c.434T>C	ENSP00000494165.1:p.Val145Ala
ENST00000643342.1:c.236T>C
ENST00000643439.1:c.*903T>C	ENSP00000495849.1:n.*903T>C
ENST00000643479.1:n.1349T>C
ENST00000643516.1:c.672T>C
ENST00000644218.1:c.974T>C	ENSP00000493574.1:p.Val325Ala
ENST00000644683.1:c.*616T>C	ENSP00000494085.1:n.*616T>C
ENST00000644810.1:c.884T>C	ENSP00000495895.1:p.Val295Ala
ENST00000644831.1:n.1339T>C
ENST00000644933.1:c.*29T>C	ENSP00000496133.1:n.*29T>C
ENST00000645285.1:c.*29T>C	ENSP00000495058.1:n.*29T>C
ENST00000645331.1:n.2368T>C
ENST00000645620.1:c.434T>C	ENSP00000493657.1:p.Val145Ala
ENST00000646691.1:n.938T>C
ENST00000646777.1:n.1496T>C
ENST00000647016.1:n.1643T>C
ENST00000647152.1:c.434T>C	ENSP00000495893.1:p.Val145Ala
ENST00000647209.1:c.*1032T>C	ENSP00000495558.1:n.*1032T>C
ENST00000647346.1:n.2183T>C
ENST00000299427.10:c.1163T>C	ENSP00000299427.6:p.Val388Ala
ENST00000524924.1:n.118T>C
ENST00000532191.1:n.216T>C
ENST00000533371.5:c.434T>C	ENSP00000437066.1:p.Val145Ala
ENST00000611494.4:c.1163T>C	ENSP00000484546.1:p.Val388Ala
NM_000391.3:c.1163T>C	NP_000382.3:p.Val388Ala
NM_000391.4:c.1163T>C MANE Select	NP_000382.3:p.Val388Ala