Canonical Allele Identifier: CA478165015
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1944545035
gnomAD v3: 12-6869752-C-T
gnomAD v4: 12-6869752-C-T
MyVariant Identifiers: chr12:g.6978916C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869752C>T , CM000674.2:g.6869752C>T GRCh38
NC_000012.11:g.6978916C>T , CM000674.1:g.6978916C>T GRCh37
NC_000012.10:g.6849177C>T NCBI36
NG_011948.1:g.7333C>T
NG_013308.1:g.8606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.522C>T MANE Select ENSP00000379933.4:p.Gly174=
ENST00000229270.8:c.633C>T ENSP00000229270.4:p.Gly211=
ENST00000396705.9:c.522C>T ENSP00000379933.4:p.Gly174=
ENST00000482209.1:n.205C>T
ENST00000488464.6:c.276C>T ENSP00000475620.1:p.Gly92=
ENST00000493987.5:c.276C>T ENSP00000475364.1:p.Gly92=
ENST00000495834.1:c.276C>T ENSP00000475829.1:p.Gly92=
ENST00000535434.5:c.276C>T ENSP00000443599.1:p.Gly92=
ENST00000613953.4:c.633C>T ENSP00000484435.1:p.Gly211=
NM_000365.5:c.522C>T NP_000356.1:p.Gly174=
NM_001159287.1:c.633C>T NP_001152759.1:p.Gly211=
NM_001258026.1:c.276C>T NP_001244955.1:p.Gly92=
XR_002957378.1:n.1255C>T
NM_000365.6:c.522C>T MANE Select NP_000356.1:p.Gly174=
NM_001258026.2:c.276C>T NP_001244955.1:p.Gly92=