Canonical Allele Identifier: CA2014289431

Gene: TPI1

Linked Data

• dbSNP Id: rs1944549264
• gnomAD v3: 12-6869904-A-AGG
• gnomAD v4: 12-6869904-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6869906_6869907dup , CM000674.2:g.6869906_6869907dup	GRCh38
NC_000012.11:g.6979070_6979071dup , CM000674.1:g.6979070_6979071dup	GRCh37
NC_000012.10:g.6849331_6849332dup	NCBI36
NG_011948.1:g.7487_7488dup
NG_013308.1:g.8452_8453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.543+133_543+134dup MANE Select	ENSP00000379933.4:n.543+133_543+134dup
ENST00000229270.8:c.654+133_654+134dup	ENSP00000229270.4:n.654+133_654+134dup
ENST00000396705.9:c.543+133_543+134dup	ENSP00000379933.4:n.543+133_543+134dup
ENST00000482209.1:n.227-130_227-129dup
ENST00000488464.6:c.297+133_297+134dup	ENSP00000475620.1:n.297+133_297+134dup
ENST00000493987.5:c.297+133_297+134dup	ENSP00000475364.1:n.297+133_297+134dup
ENST00000535434.5:c.297+133_297+134dup	ENSP00000443599.1:n.297+133_297+134dup
ENST00000613953.4:c.654+133_654+134dup	ENSP00000484435.1:n.654+133_654+134dup
NM_000365.5:c.543+133_543+134dup	NP_000356.1:n.543+133_543+134dup
NM_001159287.1:c.654+133_654+134dup	NP_001152759.1:n.654+133_654+134dup
NM_001258026.1:c.297+133_297+134dup	NP_001244955.1:n.297+133_297+134dup
XR_002957378.1:n.1409_1410dup
NM_000365.6:c.543+133_543+134dup MANE Select	NP_000356.1:n.543+133_543+134dup
NM_001258026.2:c.297+133_297+134dup	NP_001244955.1:n.297+133_297+134dup