Canonical Allele Identifier: CA379476567

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638981C>G (hg19) ; chr11:g.6617750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617750C>G , CM000673.2:g.6617750C>G	GRCh38
NC_000011.9:g.6638981C>G , CM000673.1:g.6638981C>G	GRCh37
NC_000011.8:g.6595557C>G	NCBI36
NG_008653.1:g.6712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.142G>C	ENSP00000507321.1:p.Ala48Pro
ENST00000299427.12:c.256G>C MANE Select	ENSP00000299427.6:p.Ala86Pro
ENST00000428886.7:n.344G>C
ENST00000436873.7:c.60G>C
ENST00000524788.2:n.1268G>C
ENST00000524903.2:n.1384G>C
ENST00000528571.6:c.116G>C	ENSP00000434647.1:p.Gly39Ala
ENST00000530040.2:n.285G>C
ENST00000533371.6:c.-474G>C	ENSP00000437066.1:n.-474G>C
ENST00000534644.6:n.257G>C
ENST00000642892.1:c.-421G>C	ENSP00000494165.1:n.-421G>C
ENST00000643439.1:c.116G>C	ENSP00000495849.1:p.Gly39Ala
ENST00000643479.1:n.285G>C
ENST00000643516.1:c.143G>C
ENST00000644151.1:n.1548G>C
ENST00000644218.1:c.256G>C	ENSP00000493574.1:p.Ala86Pro
ENST00000644683.1:c.256G>C	ENSP00000494085.1:p.Ala86Pro
ENST00000644810.1:c.230-597G>C	ENSP00000495895.1:n.230-597G>C
ENST00000644831.1:n.285G>C
ENST00000644933.1:c.-474G>C	ENSP00000496133.1:n.-474G>C
ENST00000645020.1:n.1284G>C
ENST00000645285.1:c.-474G>C	ENSP00000495058.1:n.-474G>C
ENST00000645331.1:n.278G>C
ENST00000645620.1:c.-416G>C	ENSP00000493657.1:n.-416G>C
ENST00000646777.1:n.285G>C
ENST00000647016.1:n.589G>C
ENST00000647152.1:c.-474G>C	ENSP00000495893.1:n.-474G>C
ENST00000647209.1:c.*125G>C	ENSP00000495558.1:n.*125G>C
ENST00000647346.1:n.1276G>C
ENST00000299427.10:c.256G>C	ENSP00000299427.6:p.Ala86Pro
ENST00000428886.6:n.278G>C
ENST00000436873.6:c.256G>C	ENSP00000398136.2:p.Ala86Pro
ENST00000528571.5:c.116G>C	ENSP00000434647.1:p.Gly39Ala
ENST00000528917.1:n.557G>C
ENST00000530040.1:n.368G>C
ENST00000533371.5:c.-474G>C	ENSP00000437066.1:n.-474G>C
ENST00000534644.5:n.241G>C
ENST00000611494.4:c.256G>C	ENSP00000484546.1:p.Ala86Pro
NM_000391.3:c.256G>C	NP_000382.3:p.Ala86Pro
NM_000391.4:c.256G>C MANE Select	NP_000382.3:p.Ala86Pro