Canonical Allele Identifier: CA379472730

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636506A>G (hg19) ; chr11:g.6615275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615275A>G , CM000673.2:g.6615275A>G	GRCh38
NC_000011.9:g.6636506A>G , CM000673.1:g.6636506A>G	GRCh37
NC_000011.8:g.6593082A>G	NCBI36
NG_008653.1:g.9187T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1207T>C	ENSP00000507321.1:p.Tyr403His
ENST00000299427.12:c.1321T>C MANE Select	ENSP00000299427.6:p.Tyr441His
ENST00000524611.2:n.181T>C
ENST00000524924.2:n.441T>C
ENST00000533371.6:c.592T>C	ENSP00000437066.1:p.Tyr198His
ENST00000642892.1:c.592T>C	ENSP00000494165.1:p.Tyr198His
ENST00000643342.1:c.394T>C
ENST00000643439.1:c.*1061T>C	ENSP00000495849.1:n.*1061T>C
ENST00000643479.1:n.1507T>C
ENST00000643516.1:c.830T>C
ENST00000644218.1:c.1132T>C	ENSP00000493574.1:p.Tyr378His
ENST00000644683.1:c.*774T>C	ENSP00000494085.1:n.*774T>C
ENST00000644810.1:c.1042T>C	ENSP00000495895.1:p.Tyr348His
ENST00000644831.1:n.1497T>C
ENST00000644933.1:c.*187T>C	ENSP00000496133.1:n.*187T>C
ENST00000645285.1:c.*187T>C	ENSP00000495058.1:n.*187T>C
ENST00000645331.1:n.2526T>C
ENST00000645620.1:c.592T>C	ENSP00000493657.1:p.Tyr198His
ENST00000646691.1:n.1208T>C
ENST00000646777.1:n.1654T>C
ENST00000647016.1:n.1801T>C
ENST00000647152.1:c.592T>C	ENSP00000495893.1:p.Tyr198His
ENST00000647209.1:c.*1190T>C	ENSP00000495558.1:n.*1190T>C
ENST00000647346.1:n.2341T>C
ENST00000299427.10:c.1321T>C	ENSP00000299427.6:p.Tyr441His
ENST00000524611.1:n.199T>C
ENST00000524924.1:n.276T>C
ENST00000532191.1:n.374T>C
ENST00000533371.5:c.592T>C	ENSP00000437066.1:p.Tyr198His
ENST00000611494.4:c.1321T>C	ENSP00000484546.1:p.Tyr441His
NM_000391.3:c.1321T>C	NP_000382.3:p.Tyr441His
NM_000391.4:c.1321T>C MANE Select	NP_000382.3:p.Tyr441His