Canonical Allele Identifier: CA472922701

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637953T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616722T>G , CM000673.2:g.6616722T>G	GRCh38
NC_000011.9:g.6637953T>G , CM000673.1:g.6637953T>G	GRCh37
NC_000011.8:g.6594529T>G	NCBI36
NG_008653.1:g.7740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.711A>C	ENSP00000507321.1:p.Leu237=
ENST00000299427.12:c.825A>C MANE Select	ENSP00000299427.6:p.Leu275=
ENST00000436873.7:c.312+579A>C
ENST00000524788.2:n.1984A>C
ENST00000524903.2:n.2100A>C
ENST00000528807.2:n.481A>C
ENST00000530040.2:n.480-219A>C
ENST00000533371.6:c.96A>C	ENSP00000437066.1:p.Leu32=
ENST00000642892.1:c.96A>C	ENSP00000494165.1:p.Leu32=
ENST00000643439.1:c.*565A>C	ENSP00000495849.1:n.*565A>C
ENST00000643479.1:n.854A>C
ENST00000643516.1:c.396-219A>C
ENST00000644151.1:n.2264A>C
ENST00000644218.1:c.825A>C	ENSP00000493574.1:p.Leu275=
ENST00000644683.1:c.*278A>C	ENSP00000494085.1:n.*278A>C
ENST00000644810.1:c.546A>C	ENSP00000495895.1:p.Leu182=
ENST00000644831.1:n.1001A>C
ENST00000644933.1:c.96A>C	ENSP00000496133.1:p.Leu32=
ENST00000645020.1:n.2115A>C
ENST00000645285.1:c.96A>C	ENSP00000495058.1:p.Leu32=
ENST00000645331.1:n.1191A>C
ENST00000645620.1:c.96A>C	ENSP00000493657.1:p.Leu32=
ENST00000646777.1:n.1001A>C
ENST00000647016.1:n.1305A>C
ENST00000647152.1:c.96A>C	ENSP00000495893.1:p.Leu32=
ENST00000647209.1:c.*694A>C	ENSP00000495558.1:n.*694A>C
ENST00000647346.1:n.1845A>C
ENST00000299427.10:c.825A>C	ENSP00000299427.6:p.Leu275=
ENST00000436873.6:c.451-219A>C	ENSP00000398136.2:n.451-219A>C
ENST00000524788.1:n.525A>C
ENST00000528807.1:n.375A>C
ENST00000533371.5:c.96A>C	ENSP00000437066.1:p.Leu32=
ENST00000611494.4:c.825A>C	ENSP00000484546.1:p.Leu275=
NM_000391.3:c.825A>C	NP_000382.3:p.Leu275=
NM_000391.4:c.825A>C MANE Select	NP_000382.3:p.Leu275=