Canonical Allele Identifier: CA383714290

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870366-A-G
• MyVariant Identifiers: chr12:g.6979530A>G (hg19) ; chr12:g.6870366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870366A>G , CM000674.2:g.6870366A>G	GRCh38
NC_000012.11:g.6979530A>G , CM000674.1:g.6979530A>G	GRCh37
NC_000012.10:g.6849791A>G	NCBI36
NG_011948.1:g.7947A>G
NG_013308.1:g.7992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.733A>G MANE Select	ENSP00000379933.4:p.Ile245Val
ENST00000229270.8:c.844A>G	ENSP00000229270.4:p.Ile282Val
ENST00000396705.9:c.733A>G	ENSP00000379933.4:p.Ile245Val
ENST00000474253.1:n.222A>G
ENST00000488464.6:c.487A>G	ENSP00000475620.1:p.Ile163Val
ENST00000535434.5:c.487A>G	ENSP00000443599.1:p.Ile163Val
ENST00000613953.4:c.844A>G	ENSP00000484435.1:p.Ile282Val
NM_000365.5:c.733A>G	NP_000356.1:p.Ile245Val
NM_001159287.1:c.844A>G	NP_001152759.1:p.Ile282Val
NM_001258026.1:c.487A>G	NP_001244955.1:p.Ile163Val
XR_002957378.1:n.1741A>G
NM_000365.6:c.733A>G MANE Select	NP_000356.1:p.Ile245Val
NM_001258026.2:c.487A>G	NP_001244955.1:p.Ile163Val