Canonical Allele Identifier: CA379476372

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638924C>G (hg19) ; chr11:g.6617693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617693C>G , CM000673.2:g.6617693C>G	GRCh38
NC_000011.9:g.6638924C>G , CM000673.1:g.6638924C>G	GRCh37
NC_000011.8:g.6595500C>G	NCBI36
NG_008653.1:g.6769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.199G>C	ENSP00000507321.1:p.Ala67Pro
ENST00000299427.12:c.313G>C MANE Select	ENSP00000299427.6:p.Ala105Pro
ENST00000428886.7:n.401G>C
ENST00000436873.7:c.117G>C
ENST00000524788.2:n.1325G>C
ENST00000524903.2:n.1441G>C
ENST00000528571.6:c.*53G>C	ENSP00000434647.1:n.*53G>C
ENST00000530040.2:n.342G>C
ENST00000533371.6:c.-417G>C	ENSP00000437066.1:n.-417G>C
ENST00000534644.6:n.314G>C
ENST00000642892.1:c.-364G>C	ENSP00000494165.1:n.-364G>C
ENST00000643439.1:c.*53G>C	ENSP00000495849.1:n.*53G>C
ENST00000643479.1:n.342G>C
ENST00000643516.1:c.200G>C
ENST00000644151.1:n.1605G>C
ENST00000644218.1:c.313G>C	ENSP00000493574.1:p.Ala105Pro
ENST00000644683.1:c.313G>C	ENSP00000494085.1:p.Ala105Pro
ENST00000644810.1:c.230-540G>C	ENSP00000495895.1:n.230-540G>C
ENST00000644831.1:n.342G>C
ENST00000644933.1:c.-417G>C	ENSP00000496133.1:n.-417G>C
ENST00000645020.1:n.1341G>C
ENST00000645285.1:c.-417G>C	ENSP00000495058.1:n.-417G>C
ENST00000645331.1:n.335G>C
ENST00000645620.1:c.-359G>C	ENSP00000493657.1:n.-359G>C
ENST00000646777.1:n.342G>C
ENST00000647016.1:n.646G>C
ENST00000647152.1:c.-417G>C	ENSP00000495893.1:n.-417G>C
ENST00000647209.1:c.*182G>C	ENSP00000495558.1:n.*182G>C
ENST00000647346.1:n.1333G>C
ENST00000299427.10:c.313G>C	ENSP00000299427.6:p.Ala105Pro
ENST00000428886.6:n.335G>C
ENST00000436873.6:c.313G>C	ENSP00000398136.2:p.Ala105Pro
ENST00000528571.5:c.*53G>C	ENSP00000434647.1:n.*53G>C
ENST00000530040.1:n.425G>C
ENST00000533371.5:c.-417G>C	ENSP00000437066.1:n.-417G>C
ENST00000534644.5:n.298G>C
ENST00000611494.4:c.313G>C	ENSP00000484546.1:p.Ala105Pro
NM_000391.3:c.313G>C	NP_000382.3:p.Ala105Pro
NM_000391.4:c.313G>C MANE Select	NP_000382.3:p.Ala105Pro