Canonical Allele Identifier: CA379474390

Gene: TPP1

Linked Data

• ClinVar Variation Id: 527755
• ClinVar RCV Id: RCV000632719 ; RCV001281468 ; RCV003235318
• dbSNP Id: rs1314521780
• gnomAD v2: 11-6637662-A-C
• gnomAD v4: 11-6616431-A-C
• MyVariant Identifiers: chr11:g.6637662A>C (hg19) ; chr11:g.6616431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616431A>C , CM000673.2:g.6616431A>C	GRCh38
NC_000011.9:g.6637662A>C , CM000673.1:g.6637662A>C	GRCh37
NC_000011.8:g.6594238A>C	NCBI36
NG_008653.1:g.8031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.845T>G	ENSP00000507321.1:p.Val282Gly
ENST00000299427.12:c.959T>G MANE Select	ENSP00000299427.6:p.Val320Gly
ENST00000436873.7:c.313-357T>G
ENST00000530040.2:n.552T>G
ENST00000533371.6:c.230T>G	ENSP00000437066.1:p.Val77Gly
ENST00000642892.1:c.230T>G	ENSP00000494165.1:p.Val77Gly
ENST00000643342.1:c.49T>G
ENST00000643439.1:c.*699T>G	ENSP00000495849.1:n.*699T>G
ENST00000643479.1:n.1145T>G
ENST00000643516.1:c.468T>G
ENST00000644218.1:c.886+230T>G	ENSP00000493574.1:n.886+230T>G
ENST00000644683.1:c.*412T>G	ENSP00000494085.1:n.*412T>G
ENST00000644810.1:c.680T>G	ENSP00000495895.1:p.Val227Gly
ENST00000644831.1:n.1135T>G
ENST00000644933.1:c.230T>G	ENSP00000496133.1:p.Val77Gly
ENST00000645285.1:c.157+230T>G	ENSP00000495058.1:n.157+230T>G
ENST00000645331.1:n.1482T>G
ENST00000645620.1:c.230T>G	ENSP00000493657.1:p.Val77Gly
ENST00000646691.1:n.52T>G
ENST00000646777.1:n.1292T>G
ENST00000647016.1:n.1439T>G
ENST00000647152.1:c.230T>G	ENSP00000495893.1:p.Val77Gly
ENST00000647209.1:c.*828T>G	ENSP00000495558.1:n.*828T>G
ENST00000647346.1:n.1979T>G
ENST00000299427.10:c.959T>G	ENSP00000299427.6:p.Val320Gly
ENST00000436873.6:c.523T>G	ENSP00000398136.2:p.Cys175Gly
ENST00000533371.5:c.230T>G	ENSP00000437066.1:p.Val77Gly
ENST00000611494.4:c.959T>G	ENSP00000484546.1:p.Val320Gly
NM_000391.3:c.959T>G	NP_000382.3:p.Val320Gly
NM_000391.4:c.959T>G MANE Select	NP_000382.3:p.Val320Gly