Canonical Allele Identifier: CA6418991

Gene: TPI1

Linked Data

• ClinVar Variation Id: 881844
• ClinVar RCV Id: RCV001111127 ; RCV002558112
• dbSNP Id: rs369241009
• ExAC: 12:6979227 C / T
• gnomAD v2: 12-6979227-C-T
• gnomAD v4: 12-6870063-C-T
• COSMIC: COSM1323089 ; COSM1323090
• MyVariant Identifiers: chr12:g.6979227C>T (hg19) ; chr12:g.6870063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870063C>T , CM000674.2:g.6870063C>T	GRCh38
NC_000012.11:g.6979227C>T , CM000674.1:g.6979227C>T	GRCh37
NC_000012.10:g.6849488C>T	NCBI36
NG_011948.1:g.7644C>T
NG_013308.1:g.8295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.558C>T MANE Select	ENSP00000379933.4:p.His186=
ENST00000229270.8:c.669C>T	ENSP00000229270.4:p.His223=
ENST00000396705.9:c.558C>T	ENSP00000379933.4:p.His186=
ENST00000474253.1:n.47C>T
ENST00000482209.1:n.254C>T
ENST00000488464.6:c.312C>T	ENSP00000475620.1:p.His104=
ENST00000493987.5:c.312C>T	ENSP00000475364.1:p.His104=
ENST00000535434.5:c.312C>T	ENSP00000443599.1:p.His104=
ENST00000613953.4:c.669C>T	ENSP00000484435.1:p.His223=
NM_000365.5:c.558C>T	NP_000356.1:p.His186=
NM_001159287.1:c.669C>T	NP_001152759.1:p.His223=
NM_001258026.1:c.312C>T	NP_001244955.1:p.His104=
XR_002957378.1:n.1566C>T
NM_000365.6:c.558C>T MANE Select	NP_000356.1:p.His186=
NM_001258026.2:c.312C>T	NP_001244955.1:p.His104=