Canonical Allele Identifier: CA232425195
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs781989165
gnomAD v2: 12-6979788-T-G
gnomAD v4: 12-6870624-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870624T>G , CM000674.2:g.6870624T>G GRCh38
NC_000012.11:g.6979788T>G , CM000674.1:g.6979788T>G GRCh37
NC_000012.10:g.6850049T>G NCBI36
NG_011948.1:g.8205T>G
NG_013308.1:g.7734A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*241T>G MANE Select ENSP00000379933.4:n.*241T>G
ENST00000229270.8:c.*241T>G ENSP00000229270.4:n.*241T>G
ENST00000396705.9:c.*241T>G ENSP00000379933.4:n.*241T>G
ENST00000535434.5:c.*241T>G ENSP00000443599.1:n.*241T>G
ENST00000613953.4:c.*241T>G ENSP00000484435.1:n.*241T>G
NM_000365.5:c.*241T>G NP_000356.1:n.*241T>G
NM_001159287.1:c.*241T>G NP_001152759.1:n.*241T>G
NM_001258026.1:c.*241T>G NP_001244955.1:n.*241T>G
XR_002957378.1:n.1999T>G
NM_000365.6:c.*241T>G MANE Select NP_000356.1:n.*241T>G
NM_001258026.2:c.*241T>G NP_001244955.1:n.*241T>G