Canonical Allele Identifier: CA379472632

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615230-A-C
• MyVariant Identifiers: chr11:g.6636461A>C (hg19) ; chr11:g.6615230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615230A>C , CM000673.2:g.6615230A>C	GRCh38
NC_000011.9:g.6636461A>C , CM000673.1:g.6636461A>C	GRCh37
NC_000011.8:g.6593037A>C	NCBI36
NG_008653.1:g.9232T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1252T>G	ENSP00000507321.1:p.Ser418Ala
ENST00000299427.12:c.1366T>G MANE Select	ENSP00000299427.6:p.Ser456Ala
ENST00000524611.2:n.226T>G
ENST00000524924.2:n.486T>G
ENST00000533371.6:c.637T>G	ENSP00000437066.1:p.Ser213Ala
ENST00000642892.1:c.637T>G	ENSP00000494165.1:p.Ser213Ala
ENST00000643342.1:c.439T>G
ENST00000643439.1:c.*1106T>G	ENSP00000495849.1:n.*1106T>G
ENST00000643479.1:n.1552T>G
ENST00000643516.1:c.875T>G
ENST00000644218.1:c.1177T>G	ENSP00000493574.1:p.Ser393Ala
ENST00000644683.1:c.*819T>G	ENSP00000494085.1:n.*819T>G
ENST00000644810.1:c.1087T>G	ENSP00000495895.1:p.Ser363Ala
ENST00000644831.1:n.1542T>G
ENST00000644933.1:c.*232T>G	ENSP00000496133.1:n.*232T>G
ENST00000645285.1:c.*232T>G	ENSP00000495058.1:n.*232T>G
ENST00000645331.1:n.2571T>G
ENST00000645620.1:c.637T>G	ENSP00000493657.1:p.Ser213Ala
ENST00000646691.1:n.1253T>G
ENST00000646777.1:n.1699T>G
ENST00000647016.1:n.1846T>G
ENST00000647152.1:c.637T>G	ENSP00000495893.1:p.Ser213Ala
ENST00000647209.1:c.*1235T>G	ENSP00000495558.1:n.*1235T>G
ENST00000647346.1:n.2386T>G
ENST00000299427.10:c.1366T>G	ENSP00000299427.6:p.Ser456Ala
ENST00000524611.1:n.244T>G
ENST00000532191.1:n.419T>G
ENST00000533371.5:c.637T>G	ENSP00000437066.1:p.Ser213Ala
ENST00000611494.4:c.1366T>G	ENSP00000484546.1:p.Ser456Ala
NM_000391.3:c.1366T>G	NP_000382.3:p.Ser456Ala
NM_000391.4:c.1366T>G MANE Select	NP_000382.3:p.Ser456Ala