Canonical Allele Identifier: CA472771037

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1086053
• ClinVar RCV Id: RCV001403644
• dbSNP Id: rs1176517419
• gnomAD v2: 11-6636525-G-A
• gnomAD v3: 11-6615294-G-A
• gnomAD v4: 11-6615294-G-A
• MyVariant Identifiers: chr11:g.6636525G>A (hg19) ; chr11:g.6615294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615294G>A , CM000673.2:g.6615294G>A	GRCh38
NC_000011.9:g.6636525G>A , CM000673.1:g.6636525G>A	GRCh37
NC_000011.8:g.6593101G>A	NCBI36
NG_008653.1:g.9168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1188C>T	ENSP00000507321.1:p.Pro396=
ENST00000299427.12:c.1302C>T MANE Select	ENSP00000299427.6:p.Pro434=
ENST00000524611.2:n.162C>T
ENST00000524924.2:n.422C>T
ENST00000533371.6:c.573C>T	ENSP00000437066.1:p.Pro191=
ENST00000642892.1:c.573C>T	ENSP00000494165.1:p.Pro191=
ENST00000643342.1:c.375C>T
ENST00000643439.1:c.*1042C>T	ENSP00000495849.1:n.*1042C>T
ENST00000643479.1:n.1488C>T
ENST00000643516.1:c.811C>T
ENST00000644218.1:c.1113C>T	ENSP00000493574.1:p.Pro371=
ENST00000644683.1:c.*755C>T	ENSP00000494085.1:n.*755C>T
ENST00000644810.1:c.1023C>T	ENSP00000495895.1:p.Pro341=
ENST00000644831.1:n.1478C>T
ENST00000644933.1:c.*168C>T	ENSP00000496133.1:n.*168C>T
ENST00000645285.1:c.*168C>T	ENSP00000495058.1:n.*168C>T
ENST00000645331.1:n.2507C>T
ENST00000645620.1:c.573C>T	ENSP00000493657.1:p.Pro191=
ENST00000646691.1:n.1189C>T
ENST00000646777.1:n.1635C>T
ENST00000647016.1:n.1782C>T
ENST00000647152.1:c.573C>T	ENSP00000495893.1:p.Pro191=
ENST00000647209.1:c.*1171C>T	ENSP00000495558.1:n.*1171C>T
ENST00000647346.1:n.2322C>T
ENST00000299427.10:c.1302C>T	ENSP00000299427.6:p.Pro434=
ENST00000524611.1:n.180C>T
ENST00000524924.1:n.257C>T
ENST00000532191.1:n.355C>T
ENST00000533371.5:c.573C>T	ENSP00000437066.1:p.Pro191=
ENST00000611494.4:c.1302C>T	ENSP00000484546.1:p.Pro434=
NM_000391.3:c.1302C>T	NP_000382.3:p.Pro434=
NM_000391.4:c.1302C>T MANE Select	NP_000382.3:p.Pro434=