Canonical Allele Identifier: CA1950237365

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616796A= , CM000673.2:g.6616796A=	GRCh38
NC_000011.9:g.6638027A= , CM000673.1:g.6638027A=	GRCh37
NC_000011.8:g.6594603A=	NCBI36
NG_008653.1:g.7666T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.637T=	ENSP00000507321.1:p.Phe213=
ENST00000299427.12:c.751T= MANE Select	ENSP00000299427.6:p.Phe251=
ENST00000436873.7:c.312+505T=
ENST00000524788.2:n.1910T=
ENST00000524903.2:n.2026T=
ENST00000528807.2:n.407T=
ENST00000530040.2:n.480-293T=
ENST00000533371.6:c.22T=	ENSP00000437066.1:p.Phe8=
ENST00000642892.1:c.22T=	ENSP00000494165.1:p.Phe8=
ENST00000643439.1:c.*491T=	ENSP00000495849.1:n.*491T=
ENST00000643479.1:n.780T=
ENST00000643516.1:c.396-293T=
ENST00000644151.1:n.2190T=
ENST00000644218.1:c.751T=	ENSP00000493574.1:p.Phe251=
ENST00000644683.1:c.*204T=	ENSP00000494085.1:n.*204T=
ENST00000644810.1:c.472T=	ENSP00000495895.1:p.Phe158=
ENST00000644831.1:n.927T=
ENST00000644933.1:c.22T=	ENSP00000496133.1:p.Phe8=
ENST00000645020.1:n.2041T=
ENST00000645285.1:c.22T=	ENSP00000495058.1:p.Phe8=
ENST00000645331.1:n.1117T=
ENST00000645620.1:c.22T=	ENSP00000493657.1:p.Phe8=
ENST00000646777.1:n.927T=
ENST00000647016.1:n.1231T=
ENST00000647152.1:c.22T=	ENSP00000495893.1:p.Phe8=
ENST00000647209.1:c.*620T=	ENSP00000495558.1:n.*620T=
ENST00000647346.1:n.1771T=
ENST00000299427.10:c.751T=	ENSP00000299427.6:p.Phe251=
ENST00000436873.6:c.451-293T=	ENSP00000398136.2:n.451-293T=
ENST00000524788.1:n.451T=
ENST00000528807.1:n.301T=
ENST00000533371.5:c.22T=	ENSP00000437066.1:p.Phe8=
ENST00000611494.4:c.751T=	ENSP00000484546.1:p.Phe251=
NM_000391.3:c.751T=	NP_000382.3:p.Phe251=
NM_000391.4:c.751T= MANE Select	NP_000382.3:p.Phe251=