Canonical Allele Identifier: CA944389833
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1944564324
gnomAD v3: 12-6870514-T-C
gnomAD v4: 12-6870514-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870514T>C , CM000674.2:g.6870514T>C GRCh38
NC_000012.11:g.6979678T>C , CM000674.1:g.6979678T>C GRCh37
NC_000012.10:g.6849939T>C NCBI36
NG_011948.1:g.8095T>C
NG_013308.1:g.7844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*131T>C MANE Select ENSP00000379933.4:n.*131T>C
ENST00000229270.8:c.*131T>C ENSP00000229270.4:n.*131T>C
ENST00000396705.9:c.*131T>C ENSP00000379933.4:n.*131T>C
ENST00000474253.1:n.370T>C
ENST00000535434.5:c.*131T>C ENSP00000443599.1:n.*131T>C
ENST00000613953.4:c.*131T>C ENSP00000484435.1:n.*131T>C
NM_000365.5:c.*131T>C NP_000356.1:n.*131T>C
NM_001159287.1:c.*131T>C NP_001152759.1:n.*131T>C
NM_001258026.1:c.*131T>C NP_001244955.1:n.*131T>C
XR_002957378.1:n.1889T>C
NM_000365.6:c.*131T>C MANE Select NP_000356.1:n.*131T>C
NM_001258026.2:c.*131T>C NP_001244955.1:n.*131T>C