Canonical Allele Identifier: CA597439654

Gene: TPP1

Linked Data

• dbSNP Id: rs113565636
• gnomAD v2: 11-6637748-T-C
• MyVariant Identifiers: chr11:g.6637748T>C (hg19) ; chr11:g.6616517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616517T>C , CM000673.2:g.6616517T>C	GRCh38
NC_000011.9:g.6637748T>C , CM000673.1:g.6637748T>C	GRCh37
NC_000011.8:g.6594324T>C	NCBI36
NG_008653.1:g.7945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-14A>G	ENSP00000507321.1:n.773-14A>G
ENST00000299427.12:c.887-14A>G MANE Select	ENSP00000299427.6:n.887-14A>G
ENST00000436873.7:c.313-443A>G
ENST00000524903.2:n.2305A>G
ENST00000530040.2:n.480-14A>G
ENST00000533371.6:c.158-14A>G	ENSP00000437066.1:n.158-14A>G
ENST00000642892.1:c.158-14A>G	ENSP00000494165.1:n.158-14A>G
ENST00000643439.1:c.*627-14A>G	ENSP00000495849.1:n.*627-14A>G
ENST00000643479.1:n.1059A>G
ENST00000643516.1:c.396-14A>G
ENST00000644218.1:c.886+144A>G	ENSP00000493574.1:n.886+144A>G
ENST00000644683.1:c.*340-14A>G	ENSP00000494085.1:n.*340-14A>G
ENST00000644810.1:c.608-14A>G	ENSP00000495895.1:n.608-14A>G
ENST00000644831.1:n.1063-14A>G
ENST00000644933.1:c.158-14A>G	ENSP00000496133.1:n.158-14A>G
ENST00000645285.1:c.157+144A>G	ENSP00000495058.1:n.157+144A>G
ENST00000645331.1:n.1396A>G
ENST00000645620.1:c.158-14A>G	ENSP00000493657.1:n.158-14A>G
ENST00000646777.1:n.1206A>G
ENST00000647016.1:n.1367-14A>G
ENST00000647152.1:c.158-14A>G	ENSP00000495893.1:n.158-14A>G
ENST00000647209.1:c.*756-14A>G	ENSP00000495558.1:n.*756-14A>G
ENST00000647346.1:n.1907-14A>G
ENST00000299427.10:c.887-14A>G	ENSP00000299427.6:n.887-14A>G
ENST00000436873.6:c.451-14A>G	ENSP00000398136.2:n.451-14A>G
ENST00000528807.1:n.580A>G
ENST00000533371.5:c.158-14A>G	ENSP00000437066.1:n.158-14A>G
ENST00000611494.4:c.887-14A>G	ENSP00000484546.1:n.887-14A>G
NM_000391.3:c.887-14A>G	NP_000382.3:n.887-14A>G
NM_000391.4:c.887-14A>G MANE Select	NP_000382.3:n.887-14A>G