Canonical Allele Identifier: CA232424380
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1006937482
gnomAD v2: 12-6979093-T-G
gnomAD v3: 12-6869929-T-G
gnomAD v4: 12-6869929-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869929T>G , CM000674.2:g.6869929T>G GRCh38
NC_000012.11:g.6979093T>G , CM000674.1:g.6979093T>G GRCh37
NC_000012.10:g.6849354T>G NCBI36
NG_011948.1:g.7510T>G
NG_013308.1:g.8429A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.544-120T>G MANE Select ENSP00000379933.4:n.544-120T>G
ENST00000229270.8:c.655-120T>G ENSP00000229270.4:n.655-120T>G
ENST00000396705.9:c.544-120T>G ENSP00000379933.4:n.544-120T>G
ENST00000482209.1:n.227-107T>G
ENST00000488464.6:c.298-120T>G ENSP00000475620.1:n.298-120T>G
ENST00000493987.5:c.298-120T>G ENSP00000475364.1:n.298-120T>G
ENST00000535434.5:c.298-120T>G ENSP00000443599.1:n.298-120T>G
ENST00000613953.4:c.655-120T>G ENSP00000484435.1:n.655-120T>G
NM_000365.5:c.544-120T>G NP_000356.1:n.544-120T>G
NM_001159287.1:c.655-120T>G NP_001152759.1:n.655-120T>G
NM_001258026.1:c.298-120T>G NP_001244955.1:n.298-120T>G
XR_002957378.1:n.1432T>G
NM_000365.6:c.544-120T>G MANE Select NP_000356.1:n.544-120T>G
NM_001258026.2:c.298-120T>G NP_001244955.1:n.298-120T>G