Canonical Allele Identifier: CA944389620
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1944549200
gnomAD v3: 12-6869904-A-G
gnomAD v4: 12-6869904-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869904A>G , CM000674.2:g.6869904A>G GRCh38
NC_000012.11:g.6979068A>G , CM000674.1:g.6979068A>G GRCh37
NC_000012.10:g.6849329A>G NCBI36
NG_011948.1:g.7485A>G
NG_013308.1:g.8454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.543+131A>G MANE Select ENSP00000379933.4:n.543+131A>G
ENST00000229270.8:c.654+131A>G ENSP00000229270.4:n.654+131A>G
ENST00000396705.9:c.543+131A>G ENSP00000379933.4:n.543+131A>G
ENST00000482209.1:n.227-132A>G
ENST00000488464.6:c.297+131A>G ENSP00000475620.1:n.297+131A>G
ENST00000493987.5:c.297+131A>G ENSP00000475364.1:n.297+131A>G
ENST00000535434.5:c.297+131A>G ENSP00000443599.1:n.297+131A>G
ENST00000613953.4:c.654+131A>G ENSP00000484435.1:n.654+131A>G
NM_000365.5:c.543+131A>G NP_000356.1:n.543+131A>G
NM_001159287.1:c.654+131A>G NP_001152759.1:n.654+131A>G
NM_001258026.1:c.297+131A>G NP_001244955.1:n.297+131A>G
XR_002957378.1:n.1407A>G
NM_000365.6:c.543+131A>G MANE Select NP_000356.1:n.543+131A>G
NM_001258026.2:c.297+131A>G NP_001244955.1:n.297+131A>G