Canonical Allele Identifier: CA472922237

Gene: TPP1

Linked Data

• ClinVar Variation Id: 518067
• ClinVar RCV Id: RCV000611330
• dbSNP Id: rs750546113
• MyVariant Identifiers: chr11:g.6636420T>A (hg19) ; chr11:g.6615189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615189T>A , CM000673.2:g.6615189T>A	GRCh38
NC_000011.9:g.6636420T>A , CM000673.1:g.6636420T>A	GRCh37
NC_000011.8:g.6592996T>A	NCBI36
NG_008653.1:g.9273A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1293A>T	ENSP00000507321.1:p.Pro431=
ENST00000299427.12:c.1407A>T MANE Select	ENSP00000299427.6:p.Pro469=
ENST00000524611.2:n.267A>T
ENST00000524924.2:n.527A>T
ENST00000533371.6:c.678A>T	ENSP00000437066.1:p.Pro226=
ENST00000642892.1:c.678A>T	ENSP00000494165.1:p.Pro226=
ENST00000643342.1:c.480A>T
ENST00000643439.1:c.*1147A>T	ENSP00000495849.1:n.*1147A>T
ENST00000643479.1:n.1593A>T
ENST00000643516.1:c.916A>T
ENST00000644218.1:c.1218A>T	ENSP00000493574.1:p.Pro406=
ENST00000644683.1:c.*860A>T	ENSP00000494085.1:n.*860A>T
ENST00000644810.1:c.1128A>T	ENSP00000495895.1:p.Pro376=
ENST00000644831.1:n.1583A>T
ENST00000644933.1:c.*273A>T	ENSP00000496133.1:n.*273A>T
ENST00000645285.1:c.*273A>T	ENSP00000495058.1:n.*273A>T
ENST00000645331.1:n.2612A>T
ENST00000645620.1:c.678A>T	ENSP00000493657.1:p.Pro226=
ENST00000646691.1:n.1294A>T
ENST00000646777.1:n.1740A>T
ENST00000647016.1:n.1887A>T
ENST00000647152.1:c.678A>T	ENSP00000495893.1:p.Pro226=
ENST00000647209.1:c.*1276A>T	ENSP00000495558.1:n.*1276A>T
ENST00000647346.1:n.2427A>T
ENST00000299427.10:c.1407A>T	ENSP00000299427.6:p.Pro469=
ENST00000524611.1:n.285A>T
ENST00000533371.5:c.678A>T	ENSP00000437066.1:p.Pro226=
ENST00000611494.4:c.1407A>T	ENSP00000484546.1:p.Pro469=
NM_000391.3:c.1407A>T	NP_000382.3:p.Pro469=
NM_000391.4:c.1407A>T MANE Select	NP_000382.3:p.Pro469=