Canonical Allele Identifier: CA472922836

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638353T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617122T>G , CM000673.2:g.6617122T>G	GRCh38
NC_000011.9:g.6638353T>G , CM000673.1:g.6638353T>G	GRCh37
NC_000011.8:g.6594929T>G	NCBI36
NG_008653.1:g.7340A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.426A>C	ENSP00000507321.1:p.Ser142=
ENST00000299427.12:c.540A>C MANE Select	ENSP00000299427.6:p.Ser180=
ENST00000428886.7:n.775A>C
ENST00000436873.7:c.312+179A>C
ENST00000524788.2:n.1699A>C
ENST00000524903.2:n.1815A>C
ENST00000528807.2:n.196A>C
ENST00000530040.2:n.479+237A>C
ENST00000533371.6:c.-190A>C	ENSP00000437066.1:n.-190A>C
ENST00000534644.6:n.488A>C
ENST00000642892.1:c.-190A>C	ENSP00000494165.1:n.-190A>C
ENST00000643439.1:c.*280A>C	ENSP00000495849.1:n.*280A>C
ENST00000643479.1:n.569A>C
ENST00000643516.1:c.395+179A>C
ENST00000644151.1:n.1979A>C
ENST00000644218.1:c.540A>C	ENSP00000493574.1:p.Ser180=
ENST00000644683.1:c.482A>C	ENSP00000494085.1:p.His161Pro
ENST00000644810.1:c.261A>C	ENSP00000495895.1:p.Ser87=
ENST00000644831.1:n.716A>C
ENST00000644933.1:c.-190A>C	ENSP00000496133.1:n.-190A>C
ENST00000645020.1:n.1715A>C
ENST00000645285.1:c.-190A>C	ENSP00000495058.1:n.-190A>C
ENST00000645331.1:n.906A>C
ENST00000645620.1:c.-190A>C	ENSP00000493657.1:n.-190A>C
ENST00000646777.1:n.716A>C
ENST00000647016.1:n.1020A>C
ENST00000647152.1:c.-190A>C	ENSP00000495893.1:n.-190A>C
ENST00000647209.1:c.*409A>C	ENSP00000495558.1:n.*409A>C
ENST00000647346.1:n.1560A>C
ENST00000299427.10:c.540A>C	ENSP00000299427.6:p.Ser180=
ENST00000428886.6:n.709A>C
ENST00000436873.6:c.450+237A>C	ENSP00000398136.2:n.450+237A>C
ENST00000524788.1:n.240A>C
ENST00000528571.5:c.*280A>C	ENSP00000434647.1:n.*280A>C
ENST00000528807.1:n.90A>C
ENST00000533371.5:c.-190A>C	ENSP00000437066.1:n.-190A>C
ENST00000534644.5:n.525A>C
ENST00000611494.4:c.540A>C	ENSP00000484546.1:p.Ser180=
NM_000391.3:c.540A>C	NP_000382.3:p.Ser180=
NM_000391.4:c.540A>C MANE Select	NP_000382.3:p.Ser180=