Canonical Allele Identifier: CA472922970

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638895C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617664C>G , CM000673.2:g.6617664C>G	GRCh38
NC_000011.9:g.6638895C>G , CM000673.1:g.6638895C>G	GRCh37
NC_000011.8:g.6595471C>G	NCBI36
NG_008653.1:g.6798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.228G>C	ENSP00000507321.1:p.Val76=
ENST00000299427.12:c.342G>C MANE Select	ENSP00000299427.6:p.Val114=
ENST00000428886.7:n.430G>C
ENST00000436873.7:c.146G>C
ENST00000524788.2:n.1354G>C
ENST00000524903.2:n.1470G>C
ENST00000528571.6:c.*82G>C	ENSP00000434647.1:n.*82G>C
ENST00000530040.2:n.371G>C
ENST00000533371.6:c.-388G>C	ENSP00000437066.1:n.-388G>C
ENST00000534644.6:n.343G>C
ENST00000642892.1:c.-335G>C	ENSP00000494165.1:n.-335G>C
ENST00000643439.1:c.*82G>C	ENSP00000495849.1:n.*82G>C
ENST00000643479.1:n.371G>C
ENST00000643516.1:c.229G>C
ENST00000644151.1:n.1634G>C
ENST00000644218.1:c.342G>C	ENSP00000493574.1:p.Val114=
ENST00000644683.1:c.342G>C	ENSP00000494085.1:p.Val114=
ENST00000644810.1:c.230-511G>C	ENSP00000495895.1:n.230-511G>C
ENST00000644831.1:n.371G>C
ENST00000644933.1:c.-388G>C	ENSP00000496133.1:n.-388G>C
ENST00000645020.1:n.1370G>C
ENST00000645285.1:c.-388G>C	ENSP00000495058.1:n.-388G>C
ENST00000645331.1:n.364G>C
ENST00000645620.1:c.-330G>C	ENSP00000493657.1:n.-330G>C
ENST00000646777.1:n.371G>C
ENST00000647016.1:n.675G>C
ENST00000647152.1:c.-388G>C	ENSP00000495893.1:n.-388G>C
ENST00000647209.1:c.*211G>C	ENSP00000495558.1:n.*211G>C
ENST00000647346.1:n.1362G>C
ENST00000299427.10:c.342G>C	ENSP00000299427.6:p.Val114=
ENST00000428886.6:n.364G>C
ENST00000436873.6:c.342G>C	ENSP00000398136.2:p.Val114=
ENST00000528571.5:c.*82G>C	ENSP00000434647.1:n.*82G>C
ENST00000530040.1:n.454G>C
ENST00000533371.5:c.-388G>C	ENSP00000437066.1:n.-388G>C
ENST00000534644.5:n.327G>C
ENST00000611494.4:c.342G>C	ENSP00000484546.1:p.Val114=
NM_000391.3:c.342G>C	NP_000382.3:p.Val114=
NM_000391.4:c.342G>C MANE Select	NP_000382.3:p.Val114=