Canonical Allele Identifier: CA597439685

Gene: TPP1

Linked Data

• dbSNP Id: rs1056502368
• gnomAD v2: 11-6638825-G-C
• gnomAD v4: 11-6617594-G-C
• MyVariant Identifiers: chr11:g.6638825G>C (hg19) ; chr11:g.6617594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617594G>C , CM000673.2:g.6617594G>C	GRCh38
NC_000011.9:g.6638825G>C , CM000673.1:g.6638825G>C	GRCh37
NC_000011.8:g.6595401G>C	NCBI36
NG_008653.1:g.6868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.266+32C>G	ENSP00000507321.1:n.266+32C>G
ENST00000299427.12:c.380+32C>G MANE Select	ENSP00000299427.6:n.380+32C>G
ENST00000428886.7:n.468+32C>G
ENST00000436873.7:c.184+32C>G
ENST00000524788.2:n.1392+32C>G
ENST00000524903.2:n.1508+32C>G
ENST00000528571.6:c.*120+32C>G	ENSP00000434647.1:n.*120+32C>G
ENST00000530040.2:n.409+32C>G
ENST00000533371.6:c.-350+32C>G	ENSP00000437066.1:n.-350+32C>G
ENST00000534644.6:n.381+32C>G
ENST00000642892.1:c.-297+32C>G	ENSP00000494165.1:n.-297+32C>G
ENST00000643439.1:c.*120+32C>G	ENSP00000495849.1:n.*120+32C>G
ENST00000643479.1:n.409+32C>G
ENST00000643516.1:c.267+32C>G
ENST00000644151.1:n.1672+32C>G
ENST00000644218.1:c.380+32C>G	ENSP00000493574.1:n.380+32C>G
ENST00000644683.1:c.380+32C>G	ENSP00000494085.1:n.380+32C>G
ENST00000644810.1:c.230-441C>G	ENSP00000495895.1:n.230-441C>G
ENST00000644831.1:n.409+32C>G
ENST00000644933.1:c.-350+32C>G	ENSP00000496133.1:n.-350+32C>G
ENST00000645020.1:n.1408+32C>G
ENST00000645285.1:c.-350+32C>G	ENSP00000495058.1:n.-350+32C>G
ENST00000645331.1:n.434C>G
ENST00000645620.1:c.-292+32C>G	ENSP00000493657.1:n.-292+32C>G
ENST00000646777.1:n.409+32C>G
ENST00000647016.1:n.713+32C>G
ENST00000647152.1:c.-350+32C>G	ENSP00000495893.1:n.-350+32C>G
ENST00000647209.1:c.*249+32C>G	ENSP00000495558.1:n.*249+32C>G
ENST00000647346.1:n.1400+32C>G
ENST00000299427.10:c.380+32C>G	ENSP00000299427.6:n.380+32C>G
ENST00000428886.6:n.402+32C>G
ENST00000436873.6:c.380+32C>G	ENSP00000398136.2:n.380+32C>G
ENST00000528571.5:c.*120+32C>G	ENSP00000434647.1:n.*120+32C>G
ENST00000530040.1:n.492+32C>G
ENST00000533371.5:c.-350+32C>G	ENSP00000437066.1:n.-350+32C>G
ENST00000534644.5:n.365+32C>G
ENST00000611494.4:c.380+32C>G	ENSP00000484546.1:n.380+32C>G
NM_000391.3:c.380+32C>G	NP_000382.3:n.380+32C>G
NM_000391.4:c.380+32C>G MANE Select	NP_000382.3:n.380+32C>G