Canonical Allele Identifier: CA232424654
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1039763213
gnomAD v2: 12-6979307-G-A
gnomAD v4: 12-6870143-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870143G>A , CM000674.2:g.6870143G>A GRCh38
NC_000012.11:g.6979307G>A , CM000674.1:g.6979307G>A GRCh37
NC_000012.10:g.6849568G>A NCBI36
NG_011948.1:g.7724G>A
NG_013308.1:g.8215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.631+7G>A MANE Select ENSP00000379933.4:n.631+7G>A
ENST00000229270.8:c.742+7G>A ENSP00000229270.4:n.742+7G>A
ENST00000396705.9:c.631+7G>A ENSP00000379933.4:n.631+7G>A
ENST00000474253.1:n.120+7G>A
ENST00000488464.6:c.385+7G>A ENSP00000475620.1:n.385+7G>A
ENST00000535434.5:c.385+7G>A ENSP00000443599.1:n.385+7G>A
ENST00000613953.4:c.742+7G>A ENSP00000484435.1:n.742+7G>A
NM_000365.5:c.631+7G>A NP_000356.1:n.631+7G>A
NM_001159287.1:c.742+7G>A NP_001152759.1:n.742+7G>A
NM_001258026.1:c.385+7G>A NP_001244955.1:n.385+7G>A
XR_002957378.1:n.1639+7G>A
NM_000365.6:c.631+7G>A MANE Select NP_000356.1:n.631+7G>A
NM_001258026.2:c.385+7G>A NP_001244955.1:n.385+7G>A