Canonical Allele Identifier: CA379476562

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617747-C-G
• MyVariant Identifiers: chr11:g.6638978C>G (hg19) ; chr11:g.6617747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617747C>G , CM000673.2:g.6617747C>G	GRCh38
NC_000011.9:g.6638978C>G , CM000673.1:g.6638978C>G	GRCh37
NC_000011.8:g.6595554C>G	NCBI36
NG_008653.1:g.6715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.145G>C	ENSP00000507321.1:p.Asp49His
ENST00000299427.12:c.259G>C MANE Select	ENSP00000299427.6:p.Asp87His
ENST00000428886.7:n.347G>C
ENST00000436873.7:c.63G>C
ENST00000524788.2:n.1271G>C
ENST00000524903.2:n.1387G>C
ENST00000528571.6:c.119G>C	ENSP00000434647.1:p.Ter40Ser
ENST00000530040.2:n.288G>C
ENST00000533371.6:c.-471G>C	ENSP00000437066.1:n.-471G>C
ENST00000534644.6:n.260G>C
ENST00000642892.1:c.-418G>C	ENSP00000494165.1:n.-418G>C
ENST00000643439.1:c.119G>C	ENSP00000495849.1:p.Ter40Ser
ENST00000643479.1:n.288G>C
ENST00000643516.1:c.146G>C
ENST00000644151.1:n.1551G>C
ENST00000644218.1:c.259G>C	ENSP00000493574.1:p.Asp87His
ENST00000644683.1:c.259G>C	ENSP00000494085.1:p.Asp87His
ENST00000644810.1:c.230-594G>C	ENSP00000495895.1:n.230-594G>C
ENST00000644831.1:n.288G>C
ENST00000644933.1:c.-471G>C	ENSP00000496133.1:n.-471G>C
ENST00000645020.1:n.1287G>C
ENST00000645285.1:c.-471G>C	ENSP00000495058.1:n.-471G>C
ENST00000645331.1:n.281G>C
ENST00000645620.1:c.-413G>C	ENSP00000493657.1:n.-413G>C
ENST00000646777.1:n.288G>C
ENST00000647016.1:n.592G>C
ENST00000647152.1:c.-471G>C	ENSP00000495893.1:n.-471G>C
ENST00000647209.1:c.*128G>C	ENSP00000495558.1:n.*128G>C
ENST00000647346.1:n.1279G>C
ENST00000299427.10:c.259G>C	ENSP00000299427.6:p.Asp87His
ENST00000428886.6:n.281G>C
ENST00000436873.6:c.259G>C	ENSP00000398136.2:p.Asp87His
ENST00000528571.5:c.119G>C	ENSP00000434647.1:p.Ter40Ser
ENST00000530040.1:n.371G>C
ENST00000533371.5:c.-471G>C	ENSP00000437066.1:n.-471G>C
ENST00000534644.5:n.244G>C
ENST00000611494.4:c.259G>C	ENSP00000484546.1:p.Asp87His
NM_000391.3:c.259G>C	NP_000382.3:p.Asp87His
NM_000391.4:c.259G>C MANE Select	NP_000382.3:p.Asp87His