Canonical Allele Identifier: CA472922855

Gene: TPP1

Linked Data

• dbSNP Id: rs1855599309
• gnomAD v3: 11-6617140-G-A
• gnomAD v4: 11-6617140-G-A
• MyVariant Identifiers: chr11:g.6638371G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617140G>A , CM000673.2:g.6617140G>A	GRCh38
NC_000011.9:g.6638371G>A , CM000673.1:g.6638371G>A	GRCh37
NC_000011.8:g.6594947G>A	NCBI36
NG_008653.1:g.7322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.408C>T	ENSP00000507321.1:p.His136=
ENST00000299427.12:c.522C>T MANE Select	ENSP00000299427.6:p.His174=
ENST00000428886.7:n.757C>T
ENST00000436873.7:c.312+161C>T
ENST00000524788.2:n.1681C>T
ENST00000524903.2:n.1797C>T
ENST00000528807.2:n.178C>T
ENST00000530040.2:n.479+219C>T
ENST00000533371.6:c.-208C>T	ENSP00000437066.1:n.-208C>T
ENST00000534644.6:n.470C>T
ENST00000642892.1:c.-208C>T	ENSP00000494165.1:n.-208C>T
ENST00000643439.1:c.*262C>T	ENSP00000495849.1:n.*262C>T
ENST00000643479.1:n.551C>T
ENST00000643516.1:c.395+161C>T
ENST00000644151.1:n.1961C>T
ENST00000644218.1:c.522C>T	ENSP00000493574.1:p.His174=
ENST00000644683.1:c.464C>T	ENSP00000494085.1:p.Thr155Ile
ENST00000644810.1:c.243C>T	ENSP00000495895.1:p.His81=
ENST00000644831.1:n.698C>T
ENST00000644933.1:c.-208C>T	ENSP00000496133.1:n.-208C>T
ENST00000645020.1:n.1697C>T
ENST00000645285.1:c.-208C>T	ENSP00000495058.1:n.-208C>T
ENST00000645331.1:n.888C>T
ENST00000645620.1:c.-208C>T	ENSP00000493657.1:n.-208C>T
ENST00000646777.1:n.698C>T
ENST00000647016.1:n.1002C>T
ENST00000647152.1:c.-208C>T	ENSP00000495893.1:n.-208C>T
ENST00000647209.1:c.*391C>T	ENSP00000495558.1:n.*391C>T
ENST00000647346.1:n.1542C>T
ENST00000299427.10:c.522C>T	ENSP00000299427.6:p.His174=
ENST00000428886.6:n.691C>T
ENST00000436873.6:c.450+219C>T	ENSP00000398136.2:n.450+219C>T
ENST00000524788.1:n.222C>T
ENST00000528571.5:c.*262C>T	ENSP00000434647.1:n.*262C>T
ENST00000528807.1:n.72C>T
ENST00000533371.5:c.-208C>T	ENSP00000437066.1:n.-208C>T
ENST00000534644.5:n.507C>T
ENST00000611494.4:c.522C>T	ENSP00000484546.1:p.His174=
NM_000391.3:c.522C>T	NP_000382.3:p.His174=
NM_000391.4:c.522C>T MANE Select	NP_000382.3:p.His174=