Canonical Allele Identifier: CA472923035

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1652326
• ClinVar RCV Id: RCV002156091
• dbSNP Id: rs1344424036
• gnomAD v2: 11-6638961-G-A
• gnomAD v4: 11-6617730-G-A
• MyVariant Identifiers: chr11:g.6638961G>A (hg19) ; chr11:g.6617730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617730G>A , CM000673.2:g.6617730G>A	GRCh38
NC_000011.9:g.6638961G>A , CM000673.1:g.6638961G>A	GRCh37
NC_000011.8:g.6595537G>A	NCBI36
NG_008653.1:g.6732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.162C>T	ENSP00000507321.1:p.Ser54=
ENST00000299427.12:c.276C>T MANE Select	ENSP00000299427.6:p.Ser92=
ENST00000428886.7:n.364C>T
ENST00000436873.7:c.80C>T
ENST00000524788.2:n.1288C>T
ENST00000524903.2:n.1404C>T
ENST00000528571.6:c.*16C>T	ENSP00000434647.1:n.*16C>T
ENST00000530040.2:n.305C>T
ENST00000533371.6:c.-454C>T	ENSP00000437066.1:n.-454C>T
ENST00000534644.6:n.277C>T
ENST00000642892.1:c.-401C>T	ENSP00000494165.1:n.-401C>T
ENST00000643439.1:c.*16C>T	ENSP00000495849.1:n.*16C>T
ENST00000643479.1:n.305C>T
ENST00000643516.1:c.163C>T
ENST00000644151.1:n.1568C>T
ENST00000644218.1:c.276C>T	ENSP00000493574.1:p.Ser92=
ENST00000644683.1:c.276C>T	ENSP00000494085.1:p.Ser92=
ENST00000644810.1:c.230-577C>T	ENSP00000495895.1:n.230-577C>T
ENST00000644831.1:n.305C>T
ENST00000644933.1:c.-454C>T	ENSP00000496133.1:n.-454C>T
ENST00000645020.1:n.1304C>T
ENST00000645285.1:c.-454C>T	ENSP00000495058.1:n.-454C>T
ENST00000645331.1:n.298C>T
ENST00000645620.1:c.-396C>T	ENSP00000493657.1:n.-396C>T
ENST00000646777.1:n.305C>T
ENST00000647016.1:n.609C>T
ENST00000647152.1:c.-454C>T	ENSP00000495893.1:n.-454C>T
ENST00000647209.1:c.*145C>T	ENSP00000495558.1:n.*145C>T
ENST00000647346.1:n.1296C>T
ENST00000299427.10:c.276C>T	ENSP00000299427.6:p.Ser92=
ENST00000428886.6:n.298C>T
ENST00000436873.6:c.276C>T	ENSP00000398136.2:p.Ser92=
ENST00000528571.5:c.*16C>T	ENSP00000434647.1:n.*16C>T
ENST00000530040.1:n.388C>T
ENST00000533371.5:c.-454C>T	ENSP00000437066.1:n.-454C>T
ENST00000534644.5:n.261C>T
ENST00000611494.4:c.276C>T	ENSP00000484546.1:p.Ser92=
NM_000391.3:c.276C>T	NP_000382.3:p.Ser92=
NM_000391.4:c.276C>T MANE Select	NP_000382.3:p.Ser92=