Canonical Allele Identifier: CA383714426

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870378-C-A
• MyVariant Identifiers: chr12:g.6979542C>A (hg19) ; chr12:g.6870378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870378C>A , CM000674.2:g.6870378C>A	GRCh38
NC_000012.11:g.6979542C>A , CM000674.1:g.6979542C>A	GRCh37
NC_000012.10:g.6849803C>A	NCBI36
NG_011948.1:g.7959C>A
NG_013308.1:g.7980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.745C>A MANE Select	ENSP00000379933.4:p.Gln249Lys
ENST00000229270.8:c.856C>A	ENSP00000229270.4:p.Gln286Lys
ENST00000396705.9:c.745C>A	ENSP00000379933.4:p.Gln249Lys
ENST00000474253.1:n.234C>A
ENST00000488464.6:c.499C>A	ENSP00000475620.1:p.Gln167Lys
ENST00000535434.5:c.499C>A	ENSP00000443599.1:p.Gln167Lys
ENST00000613953.4:c.856C>A	ENSP00000484435.1:p.Gln286Lys
NM_000365.5:c.745C>A	NP_000356.1:p.Gln249Lys
NM_001159287.1:c.856C>A	NP_001152759.1:p.Gln286Lys
NM_001258026.1:c.499C>A	NP_001244955.1:p.Gln167Lys
XR_002957378.1:n.1753C>A
NM_000365.6:c.745C>A MANE Select	NP_000356.1:p.Gln249Lys
NM_001258026.2:c.499C>A	NP_001244955.1:p.Gln167Lys