Canonical Allele Identifier: CA122434
Gene: TPI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12472
ClinVar RCV Id: RCV000013290
dbSNP Id: rs121964849

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869741A>G , CM000674.2:g.6869741A>G GRCh38
NC_000012.11:g.6978905A>G , CM000674.1:g.6978905A>G GRCh37
NC_000012.10:g.6849166A>G NCBI36
NG_011948.1:g.7322A>G
NG_013308.1:g.8617T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.511A>G MANE Select ENSP00000379933.4:p.Ile171Val
ENST00000229270.8:c.622A>G ENSP00000229270.4:p.Ile208Val
ENST00000396705.9:c.511A>G ENSP00000379933.4:p.Ile171Val
ENST00000482209.1:n.194A>G
ENST00000488464.6:c.265A>G ENSP00000475620.1:p.Ile89Val
ENST00000493987.5:c.265A>G ENSP00000475364.1:p.Ile89Val
ENST00000495834.1:c.265A>G ENSP00000475829.1:p.Ile89Val
ENST00000535434.5:c.265A>G ENSP00000443599.1:p.Ile89Val
ENST00000613953.4:c.622A>G ENSP00000484435.1:p.Ile208Val
NM_000365.5:c.511A>G NP_000356.1:p.Ile171Val
NM_001159287.1:c.622A>G NP_001152759.1:p.Ile208Val
NM_001258026.1:c.265A>G NP_001244955.1:p.Ile89Val
XR_002957378.1:n.1244A>G
NM_000365.6:c.511A>G MANE Select NP_000356.1:p.Ile171Val
NM_001258026.2:c.265A>G NP_001244955.1:p.Ile89Val