Canonical Allele Identifier: CA379472817

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636550A>G (hg19) ; chr11:g.6615319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615319A>G , CM000673.2:g.6615319A>G	GRCh38
NC_000011.9:g.6636550A>G , CM000673.1:g.6636550A>G	GRCh37
NC_000011.8:g.6593126A>G	NCBI36
NG_008653.1:g.9143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1163T>C	ENSP00000507321.1:p.Val388Ala
ENST00000299427.12:c.1277T>C MANE Select	ENSP00000299427.6:p.Val426Ala
ENST00000524611.2:n.137T>C
ENST00000524924.2:n.397T>C
ENST00000533371.6:c.548T>C	ENSP00000437066.1:p.Val183Ala
ENST00000642892.1:c.548T>C	ENSP00000494165.1:p.Val183Ala
ENST00000643342.1:c.350T>C
ENST00000643439.1:c.*1017T>C	ENSP00000495849.1:n.*1017T>C
ENST00000643479.1:n.1463T>C
ENST00000643516.1:c.786T>C
ENST00000644218.1:c.1088T>C	ENSP00000493574.1:p.Val363Ala
ENST00000644683.1:c.*730T>C	ENSP00000494085.1:n.*730T>C
ENST00000644810.1:c.998T>C	ENSP00000495895.1:p.Val333Ala
ENST00000644831.1:n.1453T>C
ENST00000644933.1:c.*143T>C	ENSP00000496133.1:n.*143T>C
ENST00000645285.1:c.*143T>C	ENSP00000495058.1:n.*143T>C
ENST00000645331.1:n.2482T>C
ENST00000645620.1:c.548T>C	ENSP00000493657.1:p.Val183Ala
ENST00000646691.1:n.1164T>C
ENST00000646777.1:n.1610T>C
ENST00000647016.1:n.1757T>C
ENST00000647152.1:c.548T>C	ENSP00000495893.1:p.Val183Ala
ENST00000647209.1:c.*1146T>C	ENSP00000495558.1:n.*1146T>C
ENST00000647346.1:n.2297T>C
ENST00000299427.10:c.1277T>C	ENSP00000299427.6:p.Val426Ala
ENST00000524611.1:n.155T>C
ENST00000524924.1:n.232T>C
ENST00000532191.1:n.330T>C
ENST00000533371.5:c.548T>C	ENSP00000437066.1:p.Val183Ala
ENST00000611494.4:c.1277T>C	ENSP00000484546.1:p.Val426Ala
NM_000391.3:c.1277T>C	NP_000382.3:p.Val426Ala
NM_000391.4:c.1277T>C MANE Select	NP_000382.3:p.Val426Ala