Canonical Allele Identifier: CA472922808

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638335A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617104A>G , CM000673.2:g.6617104A>G	GRCh38
NC_000011.9:g.6638335A>G , CM000673.1:g.6638335A>G	GRCh37
NC_000011.8:g.6594911A>G	NCBI36
NG_008653.1:g.7358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.444T>C	ENSP00000507321.1:p.Pro148=
ENST00000299427.12:c.558T>C MANE Select	ENSP00000299427.6:p.Pro186=
ENST00000428886.7:n.793T>C
ENST00000436873.7:c.312+197T>C
ENST00000524788.2:n.1717T>C
ENST00000524903.2:n.1833T>C
ENST00000528807.2:n.214T>C
ENST00000530040.2:n.479+255T>C
ENST00000533371.6:c.-172T>C	ENSP00000437066.1:n.-172T>C
ENST00000534644.6:n.506T>C
ENST00000642892.1:c.-172T>C	ENSP00000494165.1:n.-172T>C
ENST00000643439.1:c.*298T>C	ENSP00000495849.1:n.*298T>C
ENST00000643479.1:n.587T>C
ENST00000643516.1:c.395+197T>C
ENST00000644151.1:n.1997T>C
ENST00000644218.1:c.558T>C	ENSP00000493574.1:p.Pro186=
ENST00000644683.1:c.*11T>C	ENSP00000494085.1:n.*11T>C
ENST00000644810.1:c.279T>C	ENSP00000495895.1:p.Pro93=
ENST00000644831.1:n.734T>C
ENST00000644933.1:c.-172T>C	ENSP00000496133.1:n.-172T>C
ENST00000645020.1:n.1733T>C
ENST00000645285.1:c.-172T>C	ENSP00000495058.1:n.-172T>C
ENST00000645331.1:n.924T>C
ENST00000645620.1:c.-172T>C	ENSP00000493657.1:n.-172T>C
ENST00000646777.1:n.734T>C
ENST00000647016.1:n.1038T>C
ENST00000647152.1:c.-172T>C	ENSP00000495893.1:n.-172T>C
ENST00000647209.1:c.*427T>C	ENSP00000495558.1:n.*427T>C
ENST00000647346.1:n.1578T>C
ENST00000299427.10:c.558T>C	ENSP00000299427.6:p.Pro186=
ENST00000428886.6:n.727T>C
ENST00000436873.6:c.450+255T>C	ENSP00000398136.2:n.450+255T>C
ENST00000524788.1:n.258T>C
ENST00000528571.5:c.*298T>C	ENSP00000434647.1:n.*298T>C
ENST00000528807.1:n.108T>C
ENST00000533371.5:c.-172T>C	ENSP00000437066.1:n.-172T>C
ENST00000534644.5:n.543T>C
ENST00000611494.4:c.558T>C	ENSP00000484546.1:p.Pro186=
NM_000391.3:c.558T>C	NP_000382.3:p.Pro186=
NM_000391.4:c.558T>C MANE Select	NP_000382.3:p.Pro186=