Canonical Allele Identifier: CA383709481

Gene: TPI1

Linked Data

• dbSNP Id: rs1944516716
• gnomAD v4: 12-6868884-A-G
• MyVariant Identifiers: chr12:g.6978048A>G (hg19) ; chr12:g.6868884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6868884A>G , CM000674.2:g.6868884A>G	GRCh38
NC_000012.11:g.6978048A>G , CM000674.1:g.6978048A>G	GRCh37
NC_000012.10:g.6848309A>G	NCBI36
NG_011948.1:g.6465A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.136A>G MANE Select	ENSP00000379933.4:p.Thr46Ala
ENST00000229270.8:c.247A>G	ENSP00000229270.4:p.Thr83Ala
ENST00000396705.9:c.136A>G	ENSP00000379933.4:p.Thr46Ala
ENST00000462761.5:c.-111A>G	ENSP00000475184.1:n.-111A>G
ENST00000488464.6:c.-111A>G	ENSP00000475620.1:n.-111A>G
ENST00000493987.5:c.-111A>G	ENSP00000475364.1:n.-111A>G
ENST00000495834.1:c.-111A>G	ENSP00000475829.1:n.-111A>G
ENST00000535434.5:c.-111A>G	ENSP00000443599.1:n.-111A>G
ENST00000613953.4:c.247A>G	ENSP00000484435.1:p.Thr83Ala
NM_000365.5:c.136A>G	NP_000356.1:p.Thr46Ala
NM_001159287.1:c.247A>G	NP_001152759.1:p.Thr83Ala
NM_001258026.1:c.-111A>G	NP_001244955.1:n.-111A>G
XR_002957378.1:n.869A>G
NM_000365.6:c.136A>G MANE Select	NP_000356.1:p.Thr46Ala
NM_001258026.2:c.-111A>G	NP_001244955.1:n.-111A>G