Canonical Allele Identifier: CA691293816
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1215944877
gnomAD v3: 12-6870658-C-T
gnomAD v4: 12-6870658-C-T
MyVariant Identifiers: chr12:g.6870658C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870658C>T , CM000674.2:g.6870658C>T GRCh38
NC_000012.11:g.6979822C>T , CM000674.1:g.6979822C>T GRCh37
NC_000012.10:g.6850083C>T NCBI36
NG_011948.1:g.8239C>T
NG_013308.1:g.7700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*275C>T MANE Select ENSP00000379933.4:n.*275C>T
ENST00000229270.8:c.*275C>T ENSP00000229270.4:n.*275C>T
ENST00000396705.9:c.*275C>T ENSP00000379933.4:n.*275C>T
ENST00000535434.5:c.*275C>T ENSP00000443599.1:n.*275C>T
ENST00000613953.4:c.*275C>T ENSP00000484435.1:n.*275C>T
NM_000365.5:c.*275C>T NP_000356.1:n.*275C>T
NM_001159287.1:c.*275C>T NP_001152759.1:n.*275C>T
NM_001258026.1:c.*275C>T NP_001244955.1:n.*275C>T
XR_002957378.1:n.2033C>T
NM_000365.6:c.*275C>T MANE Select NP_000356.1:n.*275C>T
NM_001258026.2:c.*275C>T NP_001244955.1:n.*275C>T