Canonical Allele Identifier: CA5858810

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2308679
• ClinVar RCV Id: RCV002875222
• dbSNP Id: rs766770330
• ExAC: 11:6637734 C / T
• gnomAD v2: 11-6637734-C-T
• gnomAD v3: 11-6616503-C-T
• gnomAD v4: 11-6616503-C-T
• MyVariant Identifiers: chr11:g.6637734C>T (hg19) ; chr11:g.6616503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616503C>T , CM000673.2:g.6616503C>T	GRCh38
NC_000011.9:g.6637734C>T , CM000673.1:g.6637734C>T	GRCh37
NC_000011.8:g.6594310C>T	NCBI36
NG_008653.1:g.7959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773G>A	ENSP00000507321.1:p.Gly258Asp
ENST00000299427.12:c.887G>A MANE Select	ENSP00000299427.6:p.Gly296Asp
ENST00000436873.7:c.313-429G>A
ENST00000530040.2:n.480G>A
ENST00000533371.6:c.158G>A	ENSP00000437066.1:p.Gly53Asp
ENST00000642892.1:c.158G>A	ENSP00000494165.1:p.Gly53Asp
ENST00000643439.1:c.*627G>A	ENSP00000495849.1:n.*627G>A
ENST00000643479.1:n.1073G>A
ENST00000643516.1:c.396G>A
ENST00000644218.1:c.886+158G>A	ENSP00000493574.1:n.886+158G>A
ENST00000644683.1:c.*340G>A	ENSP00000494085.1:n.*340G>A
ENST00000644810.1:c.608G>A	ENSP00000495895.1:p.Gly203Asp
ENST00000644831.1:n.1063G>A
ENST00000644933.1:c.158G>A	ENSP00000496133.1:p.Gly53Asp
ENST00000645285.1:c.157+158G>A	ENSP00000495058.1:n.157+158G>A
ENST00000645331.1:n.1410G>A
ENST00000645620.1:c.158G>A	ENSP00000493657.1:p.Gly53Asp
ENST00000646777.1:n.1220G>A
ENST00000647016.1:n.1367G>A
ENST00000647152.1:c.158G>A	ENSP00000495893.1:p.Gly53Asp
ENST00000647209.1:c.*756G>A	ENSP00000495558.1:n.*756G>A
ENST00000647346.1:n.1907G>A
ENST00000299427.10:c.887G>A	ENSP00000299427.6:p.Gly296Asp
ENST00000436873.6:c.451G>A	ENSP00000398136.2:p.Ala151Thr
ENST00000533371.5:c.158G>A	ENSP00000437066.1:p.Gly53Asp
ENST00000611494.4:c.887G>A	ENSP00000484546.1:p.Gly296Asp
NM_000391.3:c.887G>A	NP_000382.3:p.Gly296Asp
NM_000391.4:c.887G>A MANE Select	NP_000382.3:p.Gly296Asp