Canonical Allele Identifier: CA472922737

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1096121
• ClinVar RCV Id: RCV001417257
• dbSNP Id: rs1351326788
• gnomAD v3: 11-6616752-G-A
• gnomAD v4: 11-6616752-G-A
• MyVariant Identifiers: chr11:g.6637983G>A (hg19) ; chr11:g.6616752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616752G>A , CM000673.2:g.6616752G>A	GRCh38
NC_000011.9:g.6637983G>A , CM000673.1:g.6637983G>A	GRCh37
NC_000011.8:g.6594559G>A	NCBI36
NG_008653.1:g.7710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.681C>T	ENSP00000507321.1:p.Gly227=
ENST00000299427.12:c.795C>T MANE Select	ENSP00000299427.6:p.Gly265=
ENST00000436873.7:c.312+549C>T
ENST00000524788.2:n.1954C>T
ENST00000524903.2:n.2070C>T
ENST00000528807.2:n.451C>T
ENST00000530040.2:n.480-249C>T
ENST00000533371.6:c.66C>T	ENSP00000437066.1:p.Gly22=
ENST00000642892.1:c.66C>T	ENSP00000494165.1:p.Gly22=
ENST00000643439.1:c.*535C>T	ENSP00000495849.1:n.*535C>T
ENST00000643479.1:n.824C>T
ENST00000643516.1:c.396-249C>T
ENST00000644151.1:n.2234C>T
ENST00000644218.1:c.795C>T	ENSP00000493574.1:p.Gly265=
ENST00000644683.1:c.*248C>T	ENSP00000494085.1:n.*248C>T
ENST00000644810.1:c.516C>T	ENSP00000495895.1:p.Gly172=
ENST00000644831.1:n.971C>T
ENST00000644933.1:c.66C>T	ENSP00000496133.1:p.Gly22=
ENST00000645020.1:n.2085C>T
ENST00000645285.1:c.66C>T	ENSP00000495058.1:p.Gly22=
ENST00000645331.1:n.1161C>T
ENST00000645620.1:c.66C>T	ENSP00000493657.1:p.Gly22=
ENST00000646777.1:n.971C>T
ENST00000647016.1:n.1275C>T
ENST00000647152.1:c.66C>T	ENSP00000495893.1:p.Gly22=
ENST00000647209.1:c.*664C>T	ENSP00000495558.1:n.*664C>T
ENST00000647346.1:n.1815C>T
ENST00000299427.10:c.795C>T	ENSP00000299427.6:p.Gly265=
ENST00000436873.6:c.451-249C>T	ENSP00000398136.2:n.451-249C>T
ENST00000524788.1:n.495C>T
ENST00000528807.1:n.345C>T
ENST00000533371.5:c.66C>T	ENSP00000437066.1:p.Gly22=
ENST00000611494.4:c.795C>T	ENSP00000484546.1:p.Gly265=
NM_000391.3:c.795C>T	NP_000382.3:p.Gly265=
NM_000391.4:c.795C>T MANE Select	NP_000382.3:p.Gly265=