Canonical Allele Identifier: CA944389889
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1555132863
gnomAD v3: 12-6870650-G-C
gnomAD v4: 12-6870650-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870650G>C , CM000674.2:g.6870650G>C GRCh38
NC_000012.11:g.6979814G>C , CM000674.1:g.6979814G>C GRCh37
NC_000012.10:g.6850075G>C NCBI36
NG_011948.1:g.8231G>C
NG_013308.1:g.7708C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*267G>C MANE Select ENSP00000379933.4:n.*267G>C
ENST00000229270.8:c.*267G>C ENSP00000229270.4:n.*267G>C
ENST00000396705.9:c.*267G>C ENSP00000379933.4:n.*267G>C
ENST00000535434.5:c.*267G>C ENSP00000443599.1:n.*267G>C
ENST00000613953.4:c.*267G>C ENSP00000484435.1:n.*267G>C
NM_000365.5:c.*267G>C NP_000356.1:n.*267G>C
NM_001159287.1:c.*267G>C NP_001152759.1:n.*267G>C
NM_001258026.1:c.*267G>C NP_001244955.1:n.*267G>C
XR_002957378.1:n.2025G>C
NM_000365.6:c.*267G>C MANE Select NP_000356.1:n.*267G>C
NM_001258026.2:c.*267G>C NP_001244955.1:n.*267G>C