Canonical Allele Identifier: CA6418993

Gene: TPI1

Linked Data

• dbSNP Id: rs782165630
• ExAC: 12:6979228 G / A
• gnomAD v2: 12-6979228-G-A
• gnomAD v4: 12-6870064-G-A
• MyVariant Identifiers: chr12:g.6979228G>A (hg19) ; chr12:g.6870064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870064G>A , CM000674.2:g.6870064G>A	GRCh38
NC_000012.11:g.6979228G>A , CM000674.1:g.6979228G>A	GRCh37
NC_000012.10:g.6849489G>A	NCBI36
NG_011948.1:g.7645G>A
NG_013308.1:g.8294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.559G>A MANE Select	ENSP00000379933.4:p.Glu187Lys
ENST00000229270.8:c.670G>A	ENSP00000229270.4:p.Glu224Lys
ENST00000396705.9:c.559G>A	ENSP00000379933.4:p.Glu187Lys
ENST00000474253.1:n.48G>A
ENST00000482209.1:n.255G>A
ENST00000488464.6:c.313G>A	ENSP00000475620.1:p.Glu105Lys
ENST00000493987.5:c.313G>A	ENSP00000475364.1:p.Glu105Lys
ENST00000535434.5:c.313G>A	ENSP00000443599.1:p.Glu105Lys
ENST00000613953.4:c.670G>A	ENSP00000484435.1:p.Glu224Lys
NM_000365.5:c.559G>A	NP_000356.1:p.Glu187Lys
NM_001159287.1:c.670G>A	NP_001152759.1:p.Glu224Lys
NM_001258026.1:c.313G>A	NP_001244955.1:p.Glu105Lys
XR_002957378.1:n.1567G>A
NM_000365.6:c.559G>A MANE Select	NP_000356.1:p.Glu187Lys
NM_001258026.2:c.313G>A	NP_001244955.1:p.Glu105Lys