Canonical Allele Identifier: CA2617355121

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870268-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870269dup , CM000674.2:g.6870269dup	GRCh38
NC_000012.11:g.6979433dup , CM000674.1:g.6979433dup	GRCh37
NC_000012.10:g.6849694dup	NCBI36
NG_011948.1:g.7850dup
NG_013308.1:g.8089dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.636dup MANE Select	ENSP00000379933.4:p.Val213CysfsTer14
ENST00000229270.8:c.747dup	ENSP00000229270.4:p.Val250CysfsTer14
ENST00000396705.9:c.636dup	ENSP00000379933.4:p.Val213CysfsTer14
ENST00000474253.1:n.125dup
ENST00000488464.6:c.390dup	ENSP00000475620.1:p.Val131CysfsTer14
ENST00000535434.5:c.390dup	ENSP00000443599.1:p.Val131CysfsTer14
ENST00000613953.4:c.747dup	ENSP00000484435.1:p.Val250CysfsTer14
NM_000365.5:c.636dup	NP_000356.1:p.Val213CysfsTer14
NM_001159287.1:c.747dup	NP_001152759.1:p.Val250CysfsTer14
NM_001258026.1:c.390dup	NP_001244955.1:p.Val131CysfsTer14
XR_002957378.1:n.1644dup
NM_000365.6:c.636dup MANE Select	NP_000356.1:p.Val213CysfsTer14
NM_001258026.2:c.390dup	NP_001244955.1:p.Val131CysfsTer14