Canonical Allele Identifier: CA6419107

Gene: TPI1

Linked Data

• dbSNP Id: rs782083020
• ExAC: 12:6979852 A / AAG
• gnomAD v2: 12-6979852-A-AAG
• gnomAD v4: 12-6870688-A-AAG
• MyVariant Identifiers: chr12:g.6979852_6979853insAG (hg19) ; chr12:g.6870688_6870689insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870692_6870693dup , CM000674.2:g.6870692_6870693dup	GRCh38
NC_000012.11:g.6979856_6979857dup , CM000674.1:g.6979856_6979857dup	GRCh37
NC_000012.10:g.6850117_6850118dup	NCBI36
NG_011948.1:g.8273_8274dup
NG_013308.1:g.7668_7669dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*309_*310dup MANE Select	ENSP00000379933.4:n.*309_*310dup
ENST00000229270.8:c.*309_*310dup	ENSP00000229270.4:n.*309_*310dup
ENST00000396705.9:c.*309_*310dup	ENSP00000379933.4:n.*309_*310dup
ENST00000535434.5:c.*309_*310dup	ENSP00000443599.1:n.*309_*310dup
ENST00000613953.4:c.*309_*310dup	ENSP00000484435.1:n.*309_*310dup
NM_000365.5:c.*309_*310dup	NP_000356.1:n.*309_*310dup
NM_001159287.1:c.*309_*310dup	NP_001152759.1:n.*309_*310dup
NM_001258026.1:c.*309_*310dup	NP_001244955.1:n.*309_*310dup
XR_002957378.1:n.2067_2068dup
NM_000365.6:c.*309_*310dup MANE Select	NP_000356.1:n.*309_*310dup
NM_001258026.2:c.*309_*310dup	NP_001244955.1:n.*309_*310dup