Canonical Allele Identifier: CA472922977

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1561608
• ClinVar RCV Id: RCV002211954
• dbSNP Id: rs1190845861
• gnomAD v2: 11-6638587-T-C
• gnomAD v4: 11-6617356-T-C
• MyVariant Identifiers: chr11:g.6638587T>C (hg19) ; chr11:g.6617356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617356T>C , CM000673.2:g.6617356T>C	GRCh38
NC_000011.9:g.6638587T>C , CM000673.1:g.6638587T>C	GRCh37
NC_000011.8:g.6595163T>C	NCBI36
NG_008653.1:g.7106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.339A>G	ENSP00000507321.1:p.Val113=
ENST00000299427.12:c.453A>G MANE Select	ENSP00000299427.6:p.Val151=
ENST00000428886.7:n.541A>G
ENST00000436873.7:c.257A>G
ENST00000524788.2:n.1465A>G
ENST00000524903.2:n.1581A>G
ENST00000528571.6:c.*193A>G	ENSP00000434647.1:n.*193A>G
ENST00000528807.2:n.109A>G
ENST00000530040.2:n.479+3A>G
ENST00000533371.6:c.-277A>G	ENSP00000437066.1:n.-277A>G
ENST00000534644.6:n.454A>G
ENST00000642892.1:c.-224A>G	ENSP00000494165.1:n.-224A>G
ENST00000643439.1:c.*193A>G	ENSP00000495849.1:n.*193A>G
ENST00000643479.1:n.482A>G
ENST00000643516.1:c.340A>G
ENST00000644151.1:n.1745A>G
ENST00000644218.1:c.453A>G	ENSP00000493574.1:p.Val151=
ENST00000644683.1:c.450+3A>G	ENSP00000494085.1:n.450+3A>G
ENST00000644810.1:c.230-203A>G	ENSP00000495895.1:n.230-203A>G
ENST00000644831.1:n.482A>G
ENST00000644933.1:c.-277A>G	ENSP00000496133.1:n.-277A>G
ENST00000645020.1:n.1481A>G
ENST00000645285.1:c.-277A>G	ENSP00000495058.1:n.-277A>G
ENST00000645331.1:n.672A>G
ENST00000645620.1:c.-222+3A>G	ENSP00000493657.1:n.-222+3A>G
ENST00000646777.1:n.482A>G
ENST00000647016.1:n.786A>G
ENST00000647152.1:c.-277A>G	ENSP00000495893.1:n.-277A>G
ENST00000647209.1:c.*322A>G	ENSP00000495558.1:n.*322A>G
ENST00000647346.1:n.1473A>G
ENST00000299427.10:c.453A>G	ENSP00000299427.6:p.Val151=
ENST00000428886.6:n.475A>G
ENST00000436873.6:c.450+3A>G	ENSP00000398136.2:n.450+3A>G
ENST00000524788.1:n.6A>G
ENST00000528571.5:c.*193A>G	ENSP00000434647.1:n.*193A>G
ENST00000533371.5:c.-277A>G	ENSP00000437066.1:n.-277A>G
ENST00000534644.5:n.438A>G
ENST00000611494.4:c.453A>G	ENSP00000484546.1:p.Val151=
NM_000391.3:c.453A>G	NP_000382.3:p.Val151=
NM_000391.4:c.453A>G MANE Select	NP_000382.3:p.Val151=