Canonical Allele Identifier: CA217322289

Gene: TPP1

Linked Data

• dbSNP Id: rs143590045
• gnomAD v2: 11-6637389-T-C
• gnomAD v3: 11-6616158-T-C
• gnomAD v4: 11-6616158-T-C
• MyVariant Identifiers: chr11:g.6637389T>C (hg19) ; chr11:g.6616158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616158T>C , CM000673.2:g.6616158T>C	GRCh38
NC_000011.9:g.6637389T>C , CM000673.1:g.6637389T>C	GRCh37
NC_000011.8:g.6593965T>C	NCBI36
NG_008653.1:g.8304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.962-84A>G	ENSP00000507321.1:n.962-84A>G
ENST00000299427.12:c.1076-84A>G MANE Select	ENSP00000299427.6:n.1076-84A>G
ENST00000436873.7:c.313-84A>G
ENST00000524924.2:n.112A>G
ENST00000533371.6:c.347-84A>G	ENSP00000437066.1:n.347-84A>G
ENST00000642892.1:c.347-84A>G	ENSP00000494165.1:n.347-84A>G
ENST00000643342.1:c.166-84A>G
ENST00000643439.1:c.*816-84A>G	ENSP00000495849.1:n.*816-84A>G
ENST00000643479.1:n.1262-84A>G
ENST00000643516.1:c.585-84A>G
ENST00000644218.1:c.887-84A>G	ENSP00000493574.1:n.887-84A>G
ENST00000644683.1:c.*529-84A>G	ENSP00000494085.1:n.*529-84A>G
ENST00000644810.1:c.797-84A>G	ENSP00000495895.1:n.797-84A>G
ENST00000644831.1:n.1252-84A>G
ENST00000644933.1:c.347-84A>G	ENSP00000496133.1:n.347-84A>G
ENST00000645285.1:c.158-84A>G	ENSP00000495058.1:n.158-84A>G
ENST00000645331.1:n.1755A>G
ENST00000645620.1:c.347-84A>G	ENSP00000493657.1:n.347-84A>G
ENST00000646691.1:n.325A>G
ENST00000646777.1:n.1409-84A>G
ENST00000647016.1:n.1556-84A>G
ENST00000647152.1:c.347-84A>G	ENSP00000495893.1:n.347-84A>G
ENST00000647209.1:c.*945-84A>G	ENSP00000495558.1:n.*945-84A>G
ENST00000647346.1:n.2096-84A>G
ENST00000299427.10:c.1076-84A>G	ENSP00000299427.6:n.1076-84A>G
ENST00000533371.5:c.347-84A>G	ENSP00000437066.1:n.347-84A>G
ENST00000611494.4:c.1076-84A>G	ENSP00000484546.1:n.1076-84A>G
NM_000391.3:c.1076-84A>G	NP_000382.3:n.1076-84A>G
NM_000391.4:c.1076-84A>G MANE Select	NP_000382.3:n.1076-84A>G