Canonical Allele Identifier: CA472922980

Gene: TPP1

Linked Data

• ClinVar Variation Id: 750320
• ClinVar RCV Id: RCV000927276
• dbSNP Id: rs1589948939
• gnomAD v4: 11-6617673-G-A
• MyVariant Identifiers: chr11:g.6638904G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617673G>A , CM000673.2:g.6617673G>A	GRCh38
NC_000011.9:g.6638904G>A , CM000673.1:g.6638904G>A	GRCh37
NC_000011.8:g.6595480G>A	NCBI36
NG_008653.1:g.6789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.219C>T	ENSP00000507321.1:p.Cys73=
ENST00000299427.12:c.333C>T MANE Select	ENSP00000299427.6:p.Cys111=
ENST00000428886.7:n.421C>T
ENST00000436873.7:c.137C>T
ENST00000524788.2:n.1345C>T
ENST00000524903.2:n.1461C>T
ENST00000528571.6:c.*73C>T	ENSP00000434647.1:n.*73C>T
ENST00000530040.2:n.362C>T
ENST00000533371.6:c.-397C>T	ENSP00000437066.1:n.-397C>T
ENST00000534644.6:n.334C>T
ENST00000642892.1:c.-344C>T	ENSP00000494165.1:n.-344C>T
ENST00000643439.1:c.*73C>T	ENSP00000495849.1:n.*73C>T
ENST00000643479.1:n.362C>T
ENST00000643516.1:c.220C>T
ENST00000644151.1:n.1625C>T
ENST00000644218.1:c.333C>T	ENSP00000493574.1:p.Cys111=
ENST00000644683.1:c.333C>T	ENSP00000494085.1:p.Cys111=
ENST00000644810.1:c.230-520C>T	ENSP00000495895.1:n.230-520C>T
ENST00000644831.1:n.362C>T
ENST00000644933.1:c.-397C>T	ENSP00000496133.1:n.-397C>T
ENST00000645020.1:n.1361C>T
ENST00000645285.1:c.-397C>T	ENSP00000495058.1:n.-397C>T
ENST00000645331.1:n.355C>T
ENST00000645620.1:c.-339C>T	ENSP00000493657.1:n.-339C>T
ENST00000646777.1:n.362C>T
ENST00000647016.1:n.666C>T
ENST00000647152.1:c.-397C>T	ENSP00000495893.1:n.-397C>T
ENST00000647209.1:c.*202C>T	ENSP00000495558.1:n.*202C>T
ENST00000647346.1:n.1353C>T
ENST00000299427.10:c.333C>T	ENSP00000299427.6:p.Cys111=
ENST00000428886.6:n.355C>T
ENST00000436873.6:c.333C>T	ENSP00000398136.2:p.Cys111=
ENST00000528571.5:c.*73C>T	ENSP00000434647.1:n.*73C>T
ENST00000530040.1:n.445C>T
ENST00000533371.5:c.-397C>T	ENSP00000437066.1:n.-397C>T
ENST00000534644.5:n.318C>T
ENST00000611494.4:c.333C>T	ENSP00000484546.1:p.Cys111=
NM_000391.3:c.333C>T	NP_000382.3:p.Cys111=
NM_000391.4:c.333C>T MANE Select	NP_000382.3:p.Cys111=