Canonical Allele Identifier: CA5858762

Gene: TPP1

Linked Data

• dbSNP Id: rs761284709
• ExAC: 11:6637331 A / G
• gnomAD v4: 11-6616100-A-G
• MyVariant Identifiers: chr11:g.6637331A>G (hg19) ; chr11:g.6616100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616100A>G , CM000673.2:g.6616100A>G	GRCh38
NC_000011.9:g.6637331A>G , CM000673.1:g.6637331A>G	GRCh37
NC_000011.8:g.6593907A>G	NCBI36
NG_008653.1:g.8362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.962-26T>C	ENSP00000507321.1:n.962-26T>C
ENST00000299427.12:c.1076-26T>C MANE Select	ENSP00000299427.6:n.1076-26T>C
ENST00000436873.7:c.313-26T>C
ENST00000524924.2:n.170T>C
ENST00000533371.6:c.347-26T>C	ENSP00000437066.1:n.347-26T>C
ENST00000642892.1:c.347-26T>C	ENSP00000494165.1:n.347-26T>C
ENST00000643342.1:c.166-26T>C
ENST00000643439.1:c.*816-26T>C	ENSP00000495849.1:n.*816-26T>C
ENST00000643479.1:n.1262-26T>C
ENST00000643516.1:c.585-26T>C
ENST00000644218.1:c.887-26T>C	ENSP00000493574.1:n.887-26T>C
ENST00000644683.1:c.*529-26T>C	ENSP00000494085.1:n.*529-26T>C
ENST00000644810.1:c.797-26T>C	ENSP00000495895.1:n.797-26T>C
ENST00000644831.1:n.1252-26T>C
ENST00000644933.1:c.347-26T>C	ENSP00000496133.1:n.347-26T>C
ENST00000645285.1:c.158-26T>C	ENSP00000495058.1:n.158-26T>C
ENST00000645331.1:n.1813T>C
ENST00000645620.1:c.347-26T>C	ENSP00000493657.1:n.347-26T>C
ENST00000646691.1:n.383T>C
ENST00000646777.1:n.1409-26T>C
ENST00000647016.1:n.1556-26T>C
ENST00000647152.1:c.347-26T>C	ENSP00000495893.1:n.347-26T>C
ENST00000647209.1:c.*945-26T>C	ENSP00000495558.1:n.*945-26T>C
ENST00000647346.1:n.2096-26T>C
ENST00000299427.10:c.1076-26T>C	ENSP00000299427.6:n.1076-26T>C
ENST00000524924.1:n.5T>C
ENST00000533371.5:c.347-26T>C	ENSP00000437066.1:n.347-26T>C
ENST00000611494.4:c.1076-26T>C	ENSP00000484546.1:n.1076-26T>C
NM_000391.3:c.1076-26T>C	NP_000382.3:n.1076-26T>C
NM_000391.4:c.1076-26T>C MANE Select	NP_000382.3:n.1076-26T>C