Canonical Allele Identifier: CA5858767

Gene: TPP1

Linked Data

• dbSNP Id: rs2471840
• ExAC: 11:6637495 T / C
• gnomAD v2: 11-6637495-T-C
• gnomAD v3: 11-6616264-T-C
• gnomAD v4: 11-6616264-T-C
• MyVariant Identifiers: chr11:g.6637495T>C (hg19) ; chr11:g.6616264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616264T>C , CM000673.2:g.6616264T>C	GRCh38
NC_000011.9:g.6637495T>C , CM000673.1:g.6637495T>C	GRCh37
NC_000011.8:g.6594071T>C	NCBI36
NG_008653.1:g.8198A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+51A>G	ENSP00000507321.1:n.961+51A>G
ENST00000299427.12:c.1075+51A>G MANE Select	ENSP00000299427.6:n.1075+51A>G
ENST00000436873.7:c.313-190A>G
ENST00000524924.2:n.6A>G
ENST00000533371.6:c.346+51A>G	ENSP00000437066.1:n.346+51A>G
ENST00000642892.1:c.346+51A>G	ENSP00000494165.1:n.346+51A>G
ENST00000643342.1:c.165+51A>G
ENST00000643439.1:c.*815+51A>G	ENSP00000495849.1:n.*815+51A>G
ENST00000643479.1:n.1261+51A>G
ENST00000643516.1:c.584+51A>G
ENST00000644218.1:c.887-190A>G	ENSP00000493574.1:n.887-190A>G
ENST00000644683.1:c.*528+51A>G	ENSP00000494085.1:n.*528+51A>G
ENST00000644810.1:c.796+51A>G	ENSP00000495895.1:n.796+51A>G
ENST00000644831.1:n.1251+51A>G
ENST00000644933.1:c.346+51A>G	ENSP00000496133.1:n.346+51A>G
ENST00000645285.1:c.158-190A>G	ENSP00000495058.1:n.158-190A>G
ENST00000645331.1:n.1649A>G
ENST00000645620.1:c.346+51A>G	ENSP00000493657.1:n.346+51A>G
ENST00000646691.1:n.219A>G
ENST00000646777.1:n.1408+51A>G
ENST00000647016.1:n.1555+51A>G
ENST00000647152.1:c.346+51A>G	ENSP00000495893.1:n.346+51A>G
ENST00000647209.1:c.*944+51A>G	ENSP00000495558.1:n.*944+51A>G
ENST00000647346.1:n.2095+51A>G
ENST00000299427.10:c.1075+51A>G	ENSP00000299427.6:n.1075+51A>G
ENST00000533371.5:c.346+51A>G	ENSP00000437066.1:n.346+51A>G
ENST00000611494.4:c.1075+51A>G	ENSP00000484546.1:n.1075+51A>G
NM_000391.3:c.1075+51A>G	NP_000382.3:n.1075+51A>G
NM_000391.4:c.1075+51A>G MANE Select	NP_000382.3:n.1075+51A>G