Canonical Allele Identifier: CA691293139
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1172284018
gnomAD v3: 12-6869947-C-A
gnomAD v4: 12-6869947-C-A
MyVariant Identifiers: chr12:g.6869947C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869947C>A , CM000674.2:g.6869947C>A GRCh38
NC_000012.11:g.6979111C>A , CM000674.1:g.6979111C>A GRCh37
NC_000012.10:g.6849372C>A NCBI36
NG_011948.1:g.7528C>A
NG_013308.1:g.8411G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.544-102C>A MANE Select ENSP00000379933.4:n.544-102C>A
ENST00000229270.8:c.655-102C>A ENSP00000229270.4:n.655-102C>A
ENST00000396705.9:c.544-102C>A ENSP00000379933.4:n.544-102C>A
ENST00000482209.1:n.227-89C>A
ENST00000488464.6:c.298-102C>A ENSP00000475620.1:n.298-102C>A
ENST00000493987.5:c.298-102C>A ENSP00000475364.1:n.298-102C>A
ENST00000535434.5:c.298-102C>A ENSP00000443599.1:n.298-102C>A
ENST00000613953.4:c.655-102C>A ENSP00000484435.1:n.655-102C>A
NM_000365.5:c.544-102C>A NP_000356.1:n.544-102C>A
NM_001159287.1:c.655-102C>A NP_001152759.1:n.655-102C>A
NM_001258026.1:c.298-102C>A NP_001244955.1:n.298-102C>A
XR_002957378.1:n.1450C>A
NM_000365.6:c.544-102C>A MANE Select NP_000356.1:n.544-102C>A
NM_001258026.2:c.298-102C>A NP_001244955.1:n.298-102C>A