Canonical Allele Identifier: CA379474367

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637658A>G (hg19) ; chr11:g.6616427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616427A>G , CM000673.2:g.6616427A>G	GRCh38
NC_000011.9:g.6637658A>G , CM000673.1:g.6637658A>G	GRCh37
NC_000011.8:g.6594234A>G	NCBI36
NG_008653.1:g.8035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.849T>C	ENSP00000507321.1:p.His283=
ENST00000299427.12:c.963T>C MANE Select	ENSP00000299427.6:p.His321=
ENST00000436873.7:c.313-353T>C
ENST00000530040.2:n.556T>C
ENST00000533371.6:c.234T>C	ENSP00000437066.1:p.His78=
ENST00000642892.1:c.234T>C	ENSP00000494165.1:p.His78=
ENST00000643342.1:c.53T>C
ENST00000643439.1:c.*703T>C	ENSP00000495849.1:n.*703T>C
ENST00000643479.1:n.1149T>C
ENST00000643516.1:c.472T>C
ENST00000644218.1:c.886+234T>C	ENSP00000493574.1:n.886+234T>C
ENST00000644683.1:c.*416T>C	ENSP00000494085.1:n.*416T>C
ENST00000644810.1:c.684T>C	ENSP00000495895.1:p.His228=
ENST00000644831.1:n.1139T>C
ENST00000644933.1:c.234T>C	ENSP00000496133.1:p.His78=
ENST00000645285.1:c.157+234T>C	ENSP00000495058.1:n.157+234T>C
ENST00000645331.1:n.1486T>C
ENST00000645620.1:c.234T>C	ENSP00000493657.1:p.His78=
ENST00000646691.1:n.56T>C
ENST00000646777.1:n.1296T>C
ENST00000647016.1:n.1443T>C
ENST00000647152.1:c.234T>C	ENSP00000495893.1:p.His78=
ENST00000647209.1:c.*832T>C	ENSP00000495558.1:n.*832T>C
ENST00000647346.1:n.1983T>C
ENST00000299427.10:c.963T>C	ENSP00000299427.6:p.His321=
ENST00000436873.6:c.527T>C	ENSP00000398136.2:p.Ile176Thr
ENST00000533371.5:c.234T>C	ENSP00000437066.1:p.His78=
ENST00000611494.4:c.963T>C	ENSP00000484546.1:p.His321=
NM_000391.3:c.963T>C	NP_000382.3:p.His321=
NM_000391.4:c.963T>C MANE Select	NP_000382.3:p.His321=