Canonical Allele Identifier: CA379472960

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615492-A-G
• MyVariant Identifiers: chr11:g.6636723A>G (hg19) ; chr11:g.6615492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615492A>G , CM000673.2:g.6615492A>G	GRCh38
NC_000011.9:g.6636723A>G , CM000673.1:g.6636723A>G	GRCh37
NC_000011.8:g.6593299A>G	NCBI36
NG_008653.1:g.8970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1102T>C	ENSP00000507321.1:p.Tyr368His
ENST00000299427.12:c.1216T>C MANE Select	ENSP00000299427.6:p.Tyr406His
ENST00000436873.7:c.453T>C
ENST00000524924.2:n.336T>C
ENST00000533371.6:c.487T>C	ENSP00000437066.1:p.Tyr163His
ENST00000642892.1:c.487T>C	ENSP00000494165.1:p.Tyr163His
ENST00000643342.1:c.289T>C
ENST00000643439.1:c.*956T>C	ENSP00000495849.1:n.*956T>C
ENST00000643479.1:n.1402T>C
ENST00000643516.1:c.725T>C
ENST00000644218.1:c.1027T>C	ENSP00000493574.1:p.Tyr343His
ENST00000644683.1:c.*669T>C	ENSP00000494085.1:n.*669T>C
ENST00000644810.1:c.937T>C	ENSP00000495895.1:p.Tyr313His
ENST00000644831.1:n.1392T>C
ENST00000644933.1:c.*82T>C	ENSP00000496133.1:n.*82T>C
ENST00000645285.1:c.*82T>C	ENSP00000495058.1:n.*82T>C
ENST00000645331.1:n.2421T>C
ENST00000645620.1:c.487T>C	ENSP00000493657.1:p.Tyr163His
ENST00000646691.1:n.991T>C
ENST00000646777.1:n.1549T>C
ENST00000647016.1:n.1696T>C
ENST00000647152.1:c.487T>C	ENSP00000495893.1:p.Tyr163His
ENST00000647209.1:c.*1085T>C	ENSP00000495558.1:n.*1085T>C
ENST00000647346.1:n.2236T>C
ENST00000299427.10:c.1216T>C	ENSP00000299427.6:p.Tyr406His
ENST00000524924.1:n.171T>C
ENST00000532191.1:n.269T>C
ENST00000533371.5:c.487T>C	ENSP00000437066.1:p.Tyr163His
ENST00000611494.4:c.1216T>C	ENSP00000484546.1:p.Tyr406His
NM_000391.3:c.1216T>C	NP_000382.3:p.Tyr406His
NM_000391.4:c.1216T>C MANE Select	NP_000382.3:p.Tyr406His