Canonical Allele Identifier: CA232424572

Gene: TPI1

Linked Data

• dbSNP Id: rs972344113
• gnomAD v2: 12-6979237-C-T
• gnomAD v3: 12-6870073-C-T
• gnomAD v4: 12-6870073-C-T
• MyVariant Identifiers: chr12:g.6979237C>T (hg19) ; chr12:g.6870073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870073C>T , CM000674.2:g.6870073C>T	GRCh38
NC_000012.11:g.6979237C>T , CM000674.1:g.6979237C>T	GRCh37
NC_000012.10:g.6849498C>T	NCBI36
NG_011948.1:g.7654C>T
NG_013308.1:g.8285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.568C>T MANE Select	ENSP00000379933.4:p.Arg190Ter
ENST00000229270.8:c.679C>T	ENSP00000229270.4:p.Arg227Ter
ENST00000396705.9:c.568C>T	ENSP00000379933.4:p.Arg190Ter
ENST00000474253.1:n.57C>T
ENST00000482209.1:n.264C>T
ENST00000488464.6:c.322C>T	ENSP00000475620.1:p.Arg108Ter
ENST00000493987.5:c.322C>T	ENSP00000475364.1:p.Arg108Ter
ENST00000535434.5:c.322C>T	ENSP00000443599.1:p.Arg108Ter
ENST00000613953.4:c.679C>T	ENSP00000484435.1:p.Arg227Ter
NM_000365.5:c.568C>T	NP_000356.1:p.Arg190Ter
NM_001159287.1:c.679C>T	NP_001152759.1:p.Arg227Ter
NM_001258026.1:c.322C>T	NP_001244955.1:p.Arg108Ter
XR_002957378.1:n.1576C>T
NM_000365.6:c.568C>T MANE Select	NP_000356.1:p.Arg190Ter
NM_001258026.2:c.322C>T	NP_001244955.1:p.Arg108Ter