Canonical Allele Identifier: CA379474884

Gene: TPP1

Linked Data

• dbSNP Id: rs1426277822
• gnomAD v2: 11-6637912-G-C
• gnomAD v4: 11-6616681-G-C
• MyVariant Identifiers: chr11:g.6637912G>C (hg19) ; chr11:g.6616681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616681G>C , CM000673.2:g.6616681G>C	GRCh38
NC_000011.9:g.6637912G>C , CM000673.1:g.6637912G>C	GRCh37
NC_000011.8:g.6594488G>C	NCBI36
NG_008653.1:g.7781C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.752C>G	ENSP00000507321.1:p.Thr251Ser
ENST00000299427.12:c.866C>G MANE Select	ENSP00000299427.6:p.Thr289Ser
ENST00000436873.7:c.313-607C>G
ENST00000524788.2:n.2025C>G
ENST00000524903.2:n.2141C>G
ENST00000528807.2:n.522C>G
ENST00000530040.2:n.480-178C>G
ENST00000533371.6:c.137C>G	ENSP00000437066.1:p.Thr46Ser
ENST00000642892.1:c.137C>G	ENSP00000494165.1:p.Thr46Ser
ENST00000643439.1:c.*606C>G	ENSP00000495849.1:n.*606C>G
ENST00000643479.1:n.895C>G
ENST00000643516.1:c.396-178C>G
ENST00000644151.1:n.2305C>G
ENST00000644218.1:c.866C>G	ENSP00000493574.1:p.Thr289Ser
ENST00000644683.1:c.*319C>G	ENSP00000494085.1:n.*319C>G
ENST00000644810.1:c.587C>G	ENSP00000495895.1:p.Thr196Ser
ENST00000644831.1:n.1042C>G
ENST00000644933.1:c.137C>G	ENSP00000496133.1:p.Thr46Ser
ENST00000645020.1:n.2156C>G
ENST00000645285.1:c.137C>G	ENSP00000495058.1:p.Thr46Ser
ENST00000645331.1:n.1232C>G
ENST00000645620.1:c.137C>G	ENSP00000493657.1:p.Thr46Ser
ENST00000646777.1:n.1042C>G
ENST00000647016.1:n.1346C>G
ENST00000647152.1:c.137C>G	ENSP00000495893.1:p.Thr46Ser
ENST00000647209.1:c.*735C>G	ENSP00000495558.1:n.*735C>G
ENST00000647346.1:n.1886C>G
ENST00000299427.10:c.866C>G	ENSP00000299427.6:p.Thr289Ser
ENST00000436873.6:c.451-178C>G	ENSP00000398136.2:n.451-178C>G
ENST00000528807.1:n.416C>G
ENST00000533371.5:c.137C>G	ENSP00000437066.1:p.Thr46Ser
ENST00000611494.4:c.866C>G	ENSP00000484546.1:p.Thr289Ser
NM_000391.3:c.866C>G	NP_000382.3:p.Thr289Ser
NM_000391.4:c.866C>G MANE Select	NP_000382.3:p.Thr289Ser