Canonical Allele Identifier: CA472768852

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635750C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614519C>A , CM000673.2:g.6614519C>A	GRCh38
NC_000011.9:g.6635750C>A , CM000673.1:g.6635750C>A	GRCh37
NC_000011.8:g.6592326C>A	NCBI36
NG_008653.1:g.9943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*27G>T	ENSP00000507321.1:n.*27G>T
ENST00000299427.12:c.*27G>T MANE Select	ENSP00000299427.6:n.*27G>T
ENST00000524611.2:n.758G>T
ENST00000533371.6:c.*27G>T	ENSP00000437066.1:n.*27G>T
ENST00000642892.1:c.*27G>T	ENSP00000494165.1:n.*27G>T
ENST00000643342.1:c.792G>T
ENST00000643439.1:c.*1459G>T	ENSP00000495849.1:n.*1459G>T
ENST00000643479.1:n.1905G>T
ENST00000643516.1:c.1228G>T
ENST00000644218.1:c.*27G>T	ENSP00000493574.1:n.*27G>T
ENST00000644683.1:c.*1172G>T	ENSP00000494085.1:n.*1172G>T
ENST00000644810.1:c.*27G>T	ENSP00000495895.1:n.*27G>T
ENST00000644831.1:n.1895G>T
ENST00000644933.1:c.*585G>T	ENSP00000496133.1:n.*585G>T
ENST00000645285.1:c.*585G>T	ENSP00000495058.1:n.*585G>T
ENST00000645331.1:n.2924G>T
ENST00000645620.1:c.*27G>T	ENSP00000493657.1:n.*27G>T
ENST00000646691.1:n.1606G>T
ENST00000646777.1:n.2052G>T
ENST00000647016.1:n.2199G>T
ENST00000647152.1:c.*27G>T	ENSP00000495893.1:n.*27G>T
ENST00000647209.1:c.*1588G>T	ENSP00000495558.1:n.*1588G>T
ENST00000647346.1:n.2739G>T
ENST00000299427.10:c.*27G>T	ENSP00000299427.6:n.*27G>T
ENST00000533371.5:c.*27G>T	ENSP00000437066.1:n.*27G>T
ENST00000611494.4:c.*47G>T	ENSP00000484546.1:n.*47G>T
NM_000391.3:c.*27G>T	NP_000382.3:n.*27G>T
NM_000391.4:c.*27G>T MANE Select	NP_000382.3:n.*27G>T