Canonical Allele Identifier: CA2617355943
Gene: TPI1 HGNC NCBI

Linked Data

gnomAD v4: 12-6870629-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870629G>T , CM000674.2:g.6870629G>T GRCh38
NC_000012.11:g.6979793G>T , CM000674.1:g.6979793G>T GRCh37
NC_000012.10:g.6850054G>T NCBI36
NG_011948.1:g.8210G>T
NG_013308.1:g.7729C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*246G>T MANE Select ENSP00000379933.4:n.*246G>T
ENST00000229270.8:c.*246G>T ENSP00000229270.4:n.*246G>T
ENST00000396705.9:c.*246G>T ENSP00000379933.4:n.*246G>T
ENST00000535434.5:c.*246G>T ENSP00000443599.1:n.*246G>T
ENST00000613953.4:c.*246G>T ENSP00000484435.1:n.*246G>T
NM_000365.5:c.*246G>T NP_000356.1:n.*246G>T
NM_001159287.1:c.*246G>T NP_001152759.1:n.*246G>T
NM_001258026.1:c.*246G>T NP_001244955.1:n.*246G>T
XR_002957378.1:n.2004G>T
NM_000365.6:c.*246G>T MANE Select NP_000356.1:n.*246G>T
NM_001258026.2:c.*246G>T NP_001244955.1:n.*246G>T