Canonical Allele Identifier: CA379474871

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637909C>G (hg19) ; chr11:g.6616678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616678C>G , CM000673.2:g.6616678C>G	GRCh38
NC_000011.9:g.6637909C>G , CM000673.1:g.6637909C>G	GRCh37
NC_000011.8:g.6594485C>G	NCBI36
NG_008653.1:g.7784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.755G>C	ENSP00000507321.1:p.Trp252Ser
ENST00000299427.12:c.869G>C MANE Select	ENSP00000299427.6:p.Trp290Ser
ENST00000436873.7:c.313-604G>C
ENST00000524788.2:n.2028G>C
ENST00000524903.2:n.2144G>C
ENST00000528807.2:n.525G>C
ENST00000530040.2:n.480-175G>C
ENST00000533371.6:c.140G>C	ENSP00000437066.1:p.Trp47Ser
ENST00000642892.1:c.140G>C	ENSP00000494165.1:p.Trp47Ser
ENST00000643439.1:c.*609G>C	ENSP00000495849.1:n.*609G>C
ENST00000643479.1:n.898G>C
ENST00000643516.1:c.396-175G>C
ENST00000644151.1:n.2308G>C
ENST00000644218.1:c.869G>C	ENSP00000493574.1:p.Trp290Ser
ENST00000644683.1:c.*322G>C	ENSP00000494085.1:n.*322G>C
ENST00000644810.1:c.590G>C	ENSP00000495895.1:p.Trp197Ser
ENST00000644831.1:n.1045G>C
ENST00000644933.1:c.140G>C	ENSP00000496133.1:p.Trp47Ser
ENST00000645020.1:n.2159G>C
ENST00000645285.1:c.140G>C	ENSP00000495058.1:p.Trp47Ser
ENST00000645331.1:n.1235G>C
ENST00000645620.1:c.140G>C	ENSP00000493657.1:p.Trp47Ser
ENST00000646777.1:n.1045G>C
ENST00000647016.1:n.1349G>C
ENST00000647152.1:c.140G>C	ENSP00000495893.1:p.Trp47Ser
ENST00000647209.1:c.*738G>C	ENSP00000495558.1:n.*738G>C
ENST00000647346.1:n.1889G>C
ENST00000299427.10:c.869G>C	ENSP00000299427.6:p.Trp290Ser
ENST00000436873.6:c.451-175G>C	ENSP00000398136.2:n.451-175G>C
ENST00000528807.1:n.419G>C
ENST00000533371.5:c.140G>C	ENSP00000437066.1:p.Trp47Ser
ENST00000611494.4:c.869G>C	ENSP00000484546.1:p.Trp290Ser
NM_000391.3:c.869G>C	NP_000382.3:p.Trp290Ser
NM_000391.4:c.869G>C MANE Select	NP_000382.3:p.Trp290Ser