Canonical Allele Identifier: CA122429
Gene: TPI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12470
ClinVar RCV Id: RCV000013287
dbSNP Id: rs121964847
gnomAD v2: 12-6979518-T-C
gnomAD v4: 12-6870354-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870354T>C , CM000674.2:g.6870354T>C GRCh38
NC_000012.11:g.6979518T>C , CM000674.1:g.6979518T>C GRCh37
NC_000012.10:g.6849779T>C NCBI36
NG_011948.1:g.7935T>C
NG_013308.1:g.8004A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.721T>C MANE Select ENSP00000379933.4:p.Phe241Leu
ENST00000229270.8:c.832T>C ENSP00000229270.4:p.Phe278Leu
ENST00000396705.9:c.721T>C ENSP00000379933.4:p.Phe241Leu
ENST00000474253.1:n.210T>C
ENST00000488464.6:c.475T>C ENSP00000475620.1:p.Phe159Leu
ENST00000535434.5:c.475T>C ENSP00000443599.1:p.Phe159Leu
ENST00000613953.4:c.832T>C ENSP00000484435.1:p.Phe278Leu
NM_000365.5:c.721T>C NP_000356.1:p.Phe241Leu
NM_001159287.1:c.832T>C NP_001152759.1:p.Phe278Leu
NM_001258026.1:c.475T>C NP_001244955.1:p.Phe159Leu
XR_002957378.1:n.1729T>C
NM_000365.6:c.721T>C MANE Select NP_000356.1:p.Phe241Leu
NM_001258026.2:c.475T>C NP_001244955.1:p.Phe159Leu