Canonical Allele Identifier: CA379475693

Gene: TPP1

Linked Data

• dbSNP Id: rs1206307789
• gnomAD v4: 11-6617313-G-C
• MyVariant Identifiers: chr11:g.6638544G>C (hg19) ; chr11:g.6617313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617313G>C , CM000673.2:g.6617313G>C	GRCh38
NC_000011.9:g.6638544G>C , CM000673.1:g.6638544G>C	GRCh37
NC_000011.8:g.6595120G>C	NCBI36
NG_008653.1:g.7149C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.382C>G	ENSP00000507321.1:p.His128Asp
ENST00000299427.12:c.496C>G MANE Select	ENSP00000299427.6:p.His166Asp
ENST00000428886.7:n.584C>G
ENST00000436873.7:c.300C>G
ENST00000524788.2:n.1508C>G
ENST00000524903.2:n.1624C>G
ENST00000528571.6:c.*236C>G	ENSP00000434647.1:n.*236C>G
ENST00000528807.2:n.152C>G
ENST00000530040.2:n.479+46C>G
ENST00000533371.6:c.-234C>G	ENSP00000437066.1:n.-234C>G
ENST00000534644.6:n.456+41C>G
ENST00000642892.1:c.-222+41C>G	ENSP00000494165.1:n.-222+41C>G
ENST00000643439.1:c.*236C>G	ENSP00000495849.1:n.*236C>G
ENST00000643479.1:n.525C>G
ENST00000643516.1:c.383C>G
ENST00000644151.1:n.1788C>G
ENST00000644218.1:c.496C>G	ENSP00000493574.1:p.His166Asp
ENST00000644683.1:c.450+46C>G	ENSP00000494085.1:n.450+46C>G
ENST00000644810.1:c.230-160C>G	ENSP00000495895.1:n.230-160C>G
ENST00000644831.1:n.525C>G
ENST00000644933.1:c.-234C>G	ENSP00000496133.1:n.-234C>G
ENST00000645020.1:n.1524C>G
ENST00000645285.1:c.-234C>G	ENSP00000495058.1:n.-234C>G
ENST00000645331.1:n.715C>G
ENST00000645620.1:c.-222+46C>G	ENSP00000493657.1:n.-222+46C>G
ENST00000646777.1:n.525C>G
ENST00000647016.1:n.829C>G
ENST00000647152.1:c.-234C>G	ENSP00000495893.1:n.-234C>G
ENST00000647209.1:c.*365C>G	ENSP00000495558.1:n.*365C>G
ENST00000647346.1:n.1516C>G
ENST00000299427.10:c.496C>G	ENSP00000299427.6:p.His166Asp
ENST00000428886.6:n.518C>G
ENST00000436873.6:c.450+46C>G	ENSP00000398136.2:n.450+46C>G
ENST00000524788.1:n.49C>G
ENST00000528571.5:c.*236C>G	ENSP00000434647.1:n.*236C>G
ENST00000533371.5:c.-234C>G	ENSP00000437066.1:n.-234C>G
ENST00000534644.5:n.481C>G
ENST00000611494.4:c.496C>G	ENSP00000484546.1:p.His166Asp
NM_000391.3:c.496C>G	NP_000382.3:p.His166Asp
NM_000391.4:c.496C>G MANE Select	NP_000382.3:p.His166Asp