Canonical Allele Identifier: CA6418890

Gene: TPI1

Linked Data

• ClinVar Variation Id: 310359
• ClinVar RCV Id: RCV000383817 ; RCV003957609
• dbSNP Id: rs370863694
• ExAC: 12:6978284 C / T
• gnomAD v2: 12-6978284-C-T
• gnomAD v3: 12-6869120-C-T
• gnomAD v4: 12-6869120-C-T
• MyVariant Identifiers: chr12:g.6978284C>T (hg19) ; chr12:g.6869120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6869120C>T , CM000674.2:g.6869120C>T	GRCh38
NC_000012.11:g.6978284C>T , CM000674.1:g.6978284C>T	GRCh37
NC_000012.10:g.6848545C>T	NCBI36
NG_011948.1:g.6701C>T
NG_013308.1:g.9238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.261C>T MANE Select	ENSP00000379933.4:p.Cys87=
ENST00000229270.8:c.372C>T	ENSP00000229270.4:p.Cys124=
ENST00000396705.9:c.261C>T	ENSP00000379933.4:p.Cys87=
ENST00000462761.5:c.15C>T	ENSP00000475184.1:p.Cys5=
ENST00000488464.6:c.15C>T	ENSP00000475620.1:p.Cys5=
ENST00000493987.5:c.15C>T	ENSP00000475364.1:p.Cys5=
ENST00000495834.1:c.15C>T	ENSP00000475829.1:p.Cys5=
ENST00000535434.5:c.15C>T	ENSP00000443599.1:p.Cys5=
ENST00000613953.4:c.372C>T	ENSP00000484435.1:p.Cys124=
NM_000365.5:c.261C>T	NP_000356.1:p.Cys87=
NM_001159287.1:c.372C>T	NP_001152759.1:p.Cys124=
NM_001258026.1:c.15C>T	NP_001244955.1:p.Cys5=
XR_002957378.1:n.994C>T
NM_000365.6:c.261C>T MANE Select	NP_000356.1:p.Cys87=
NM_001258026.2:c.15C>T	NP_001244955.1:p.Cys5=