Canonical Allele Identifier: CA6419007
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs377417359
gnomAD v2: 12-6979284-C-G
gnomAD v3: 12-6870120-C-G
gnomAD v4: 12-6870120-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870120C>G , CM000674.2:g.6870120C>G GRCh38
NC_000012.11:g.6979284C>G , CM000674.1:g.6979284C>G GRCh37
NC_000012.10:g.6849545C>G NCBI36
NG_011948.1:g.7701C>G
NG_013308.1:g.8238G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.615C>G MANE Select ENSP00000379933.4:p.Thr205=
ENST00000229270.8:c.726C>G ENSP00000229270.4:p.Thr242=
ENST00000396705.9:c.615C>G ENSP00000379933.4:p.Thr205=
ENST00000474253.1:n.104C>G
ENST00000482209.1:n.311C>G
ENST00000488464.6:c.369C>G ENSP00000475620.1:p.Thr123=
ENST00000535434.5:c.369C>G ENSP00000443599.1:p.Thr123=
ENST00000613953.4:c.726C>G ENSP00000484435.1:p.Thr242=
NM_000365.5:c.615C>G NP_000356.1:p.Thr205=
NM_001159287.1:c.726C>G NP_001152759.1:p.Thr242=
NM_001258026.1:c.369C>G NP_001244955.1:p.Thr123=
XR_002957378.1:n.1623C>G
NM_000365.6:c.615C>G MANE Select NP_000356.1:p.Thr205=
NM_001258026.2:c.369C>G NP_001244955.1:p.Thr123=