Canonical Allele Identifier: CA6418971
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs369734826
gnomAD v2: 12-6978965-A-C
gnomAD v3: 12-6869801-A-C
gnomAD v4: 12-6869801-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869801A>C , CM000674.2:g.6869801A>C GRCh38
NC_000012.11:g.6978965A>C , CM000674.1:g.6978965A>C GRCh37
NC_000012.10:g.6849226A>C NCBI36
NG_011948.1:g.7382A>C
NG_013308.1:g.8557T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.543+28A>C MANE Select ENSP00000379933.4:n.543+28A>C
ENST00000229270.8:c.654+28A>C ENSP00000229270.4:n.654+28A>C
ENST00000396705.9:c.543+28A>C ENSP00000379933.4:n.543+28A>C
ENST00000482209.1:n.226+28A>C
ENST00000488464.6:c.297+28A>C ENSP00000475620.1:n.297+28A>C
ENST00000493987.5:c.297+28A>C ENSP00000475364.1:n.297+28A>C
ENST00000535434.5:c.297+28A>C ENSP00000443599.1:n.297+28A>C
ENST00000613953.4:c.654+28A>C ENSP00000484435.1:n.654+28A>C
NM_000365.5:c.543+28A>C NP_000356.1:n.543+28A>C
NM_001159287.1:c.654+28A>C NP_001152759.1:n.654+28A>C
NM_001258026.1:c.297+28A>C NP_001244955.1:n.297+28A>C
XR_002957378.1:n.1304A>C
NM_000365.6:c.543+28A>C MANE Select NP_000356.1:n.543+28A>C
NM_001258026.2:c.297+28A>C NP_001244955.1:n.297+28A>C