Canonical Allele Identifier: CA691293127
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1347332976
gnomAD v3: 12-6869900-T-A
gnomAD v4: 12-6869900-T-A
MyVariant Identifiers: chr12:g.6869900T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869900T>A , CM000674.2:g.6869900T>A GRCh38
NC_000012.11:g.6979064T>A , CM000674.1:g.6979064T>A GRCh37
NC_000012.10:g.6849325T>A NCBI36
NG_011948.1:g.7481T>A
NG_013308.1:g.8458A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.543+127T>A MANE Select ENSP00000379933.4:n.543+127T>A
ENST00000229270.8:c.654+127T>A ENSP00000229270.4:n.654+127T>A
ENST00000396705.9:c.543+127T>A ENSP00000379933.4:n.543+127T>A
ENST00000482209.1:n.226+127T>A
ENST00000488464.6:c.297+127T>A ENSP00000475620.1:n.297+127T>A
ENST00000493987.5:c.297+127T>A ENSP00000475364.1:n.297+127T>A
ENST00000535434.5:c.297+127T>A ENSP00000443599.1:n.297+127T>A
ENST00000613953.4:c.654+127T>A ENSP00000484435.1:n.654+127T>A
NM_000365.5:c.543+127T>A NP_000356.1:n.543+127T>A
NM_001159287.1:c.654+127T>A NP_001152759.1:n.654+127T>A
NM_001258026.1:c.297+127T>A NP_001244955.1:n.297+127T>A
XR_002957378.1:n.1403T>A
NM_000365.6:c.543+127T>A MANE Select NP_000356.1:n.543+127T>A
NM_001258026.2:c.297+127T>A NP_001244955.1:n.297+127T>A