Canonical Allele Identifier: CA217320800

Gene: TPP1

Linked Data

• dbSNP Id: rs896971560
• gnomAD v4: 11-6614623-C-G
• MyVariant Identifiers: chr11:g.6635854C>G (hg19) ; chr11:g.6614623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614623C>G , CM000673.2:g.6614623C>G	GRCh38
NC_000011.9:g.6635854C>G , CM000673.1:g.6635854C>G	GRCh37
NC_000011.8:g.6592430C>G	NCBI36
NG_008653.1:g.9839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1501G>C	ENSP00000507321.1:p.Gly501Arg
ENST00000299427.12:c.1615G>C MANE Select	ENSP00000299427.6:p.Gly539Arg
ENST00000524611.2:n.654G>C
ENST00000524924.2:n.735G>C
ENST00000533371.6:c.886G>C	ENSP00000437066.1:p.Gly296Arg
ENST00000642892.1:c.886G>C	ENSP00000494165.1:p.Gly296Arg
ENST00000643342.1:c.688G>C
ENST00000643439.1:c.*1355G>C	ENSP00000495849.1:n.*1355G>C
ENST00000643479.1:n.1801G>C
ENST00000643516.1:c.1124G>C
ENST00000644218.1:c.1426G>C	ENSP00000493574.1:p.Gly476Arg
ENST00000644683.1:c.*1068G>C	ENSP00000494085.1:n.*1068G>C
ENST00000644810.1:c.1336G>C	ENSP00000495895.1:p.Gly446Arg
ENST00000644831.1:n.1791G>C
ENST00000644933.1:c.*481G>C	ENSP00000496133.1:n.*481G>C
ENST00000645285.1:c.*481G>C	ENSP00000495058.1:n.*481G>C
ENST00000645331.1:n.2820G>C
ENST00000645620.1:c.886G>C	ENSP00000493657.1:p.Gly296Arg
ENST00000646691.1:n.1502G>C
ENST00000646777.1:n.1948G>C
ENST00000647016.1:n.2095G>C
ENST00000647152.1:c.886G>C	ENSP00000495893.1:p.Gly296Arg
ENST00000647209.1:c.*1484G>C	ENSP00000495558.1:n.*1484G>C
ENST00000647346.1:n.2635G>C
ENST00000299427.10:c.1615G>C	ENSP00000299427.6:p.Gly539Arg
ENST00000533371.5:c.886G>C	ENSP00000437066.1:p.Gly296Arg
ENST00000611494.4:c.1615G>C	ENSP00000484546.1:p.Gly539Arg
NM_000391.3:c.1615G>C	NP_000382.3:p.Gly539Arg
NM_000391.4:c.1615G>C MANE Select	NP_000382.3:p.Gly539Arg