Canonical Allele Identifier: CA379472795

Gene: TPP1

Linked Data

• dbSNP Id: rs1855562486
• MyVariant Identifiers: chr11:g.6636539G>T (hg19) ; chr11:g.6615308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615308G>T , CM000673.2:g.6615308G>T	GRCh38
NC_000011.9:g.6636539G>T , CM000673.1:g.6636539G>T	GRCh37
NC_000011.8:g.6593115G>T	NCBI36
NG_008653.1:g.9154C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1174C>A	ENSP00000507321.1:p.Leu392Met
ENST00000299427.12:c.1288C>A MANE Select	ENSP00000299427.6:p.Leu430Met
ENST00000524611.2:n.148C>A
ENST00000524924.2:n.408C>A
ENST00000533371.6:c.559C>A	ENSP00000437066.1:p.Leu187Met
ENST00000642892.1:c.559C>A	ENSP00000494165.1:p.Leu187Met
ENST00000643342.1:c.361C>A
ENST00000643439.1:c.*1028C>A	ENSP00000495849.1:n.*1028C>A
ENST00000643479.1:n.1474C>A
ENST00000643516.1:c.797C>A
ENST00000644218.1:c.1099C>A	ENSP00000493574.1:p.Leu367Met
ENST00000644683.1:c.*741C>A	ENSP00000494085.1:n.*741C>A
ENST00000644810.1:c.1009C>A	ENSP00000495895.1:p.Leu337Met
ENST00000644831.1:n.1464C>A
ENST00000644933.1:c.*154C>A	ENSP00000496133.1:n.*154C>A
ENST00000645285.1:c.*154C>A	ENSP00000495058.1:n.*154C>A
ENST00000645331.1:n.2493C>A
ENST00000645620.1:c.559C>A	ENSP00000493657.1:p.Leu187Met
ENST00000646691.1:n.1175C>A
ENST00000646777.1:n.1621C>A
ENST00000647016.1:n.1768C>A
ENST00000647152.1:c.559C>A	ENSP00000495893.1:p.Leu187Met
ENST00000647209.1:c.*1157C>A	ENSP00000495558.1:n.*1157C>A
ENST00000647346.1:n.2308C>A
ENST00000299427.10:c.1288C>A	ENSP00000299427.6:p.Leu430Met
ENST00000524611.1:n.166C>A
ENST00000524924.1:n.243C>A
ENST00000532191.1:n.341C>A
ENST00000533371.5:c.559C>A	ENSP00000437066.1:p.Leu187Met
ENST00000611494.4:c.1288C>A	ENSP00000484546.1:p.Leu430Met
NM_000391.3:c.1288C>A	NP_000382.3:p.Leu430Met
NM_000391.4:c.1288C>A MANE Select	NP_000382.3:p.Leu430Met