Canonical Allele Identifier: CA383714337

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870372-G-A
• MyVariant Identifiers: chr12:g.6979536G>A (hg19) ; chr12:g.6870372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870372G>A , CM000674.2:g.6870372G>A	GRCh38
NC_000012.11:g.6979536G>A , CM000674.1:g.6979536G>A	GRCh37
NC_000012.10:g.6849797G>A	NCBI36
NG_011948.1:g.7953G>A
NG_013308.1:g.7986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.739G>A MANE Select	ENSP00000379933.4:p.Ala247Thr
ENST00000229270.8:c.850G>A	ENSP00000229270.4:p.Ala284Thr
ENST00000396705.9:c.739G>A	ENSP00000379933.4:p.Ala247Thr
ENST00000474253.1:n.228G>A
ENST00000488464.6:c.493G>A	ENSP00000475620.1:p.Ala165Thr
ENST00000535434.5:c.493G>A	ENSP00000443599.1:p.Ala165Thr
ENST00000613953.4:c.850G>A	ENSP00000484435.1:p.Ala284Thr
NM_000365.5:c.739G>A	NP_000356.1:p.Ala247Thr
NM_001159287.1:c.850G>A	NP_001152759.1:p.Ala284Thr
NM_001258026.1:c.493G>A	NP_001244955.1:p.Ala165Thr
XR_002957378.1:n.1747G>A
NM_000365.6:c.739G>A MANE Select	NP_000356.1:p.Ala247Thr
NM_001258026.2:c.493G>A	NP_001244955.1:p.Ala165Thr