Canonical Allele Identifier: CA2617354808
Gene: TPI1 HGNC NCBI

Linked Data

gnomAD v4: 12-6870141-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870141G>C , CM000674.2:g.6870141G>C GRCh38
NC_000012.11:g.6979305G>C , CM000674.1:g.6979305G>C GRCh37
NC_000012.10:g.6849566G>C NCBI36
NG_011948.1:g.7722G>C
NG_013308.1:g.8217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.631+5G>C MANE Select ENSP00000379933.4:n.631+5G>C
ENST00000229270.8:c.742+5G>C ENSP00000229270.4:n.742+5G>C
ENST00000396705.9:c.631+5G>C ENSP00000379933.4:n.631+5G>C
ENST00000474253.1:n.120+5G>C
ENST00000488464.6:c.385+5G>C ENSP00000475620.1:n.385+5G>C
ENST00000535434.5:c.385+5G>C ENSP00000443599.1:n.385+5G>C
ENST00000613953.4:c.742+5G>C ENSP00000484435.1:n.742+5G>C
NM_000365.5:c.631+5G>C NP_000356.1:n.631+5G>C
NM_001159287.1:c.742+5G>C NP_001152759.1:n.742+5G>C
NM_001258026.1:c.385+5G>C NP_001244955.1:n.385+5G>C
XR_002957378.1:n.1639+5G>C
NM_000365.6:c.631+5G>C MANE Select NP_000356.1:n.631+5G>C
NM_001258026.2:c.385+5G>C NP_001244955.1:n.385+5G>C