Canonical Allele Identifier: CA6419039

Gene: TPI1

Linked Data

• ClinVar Variation Id: 1432423
• ClinVar RCV Id: RCV001941254 ; RCV003485749
• dbSNP Id: rs143000041
• ExAC: 12:6979527 A / G
• gnomAD v2: 12-6979527-A-G
• gnomAD v3: 12-6870363-A-G
• gnomAD v4: 12-6870363-A-G
• MyVariant Identifiers: chr12:g.6979527A>G (hg19) ; chr12:g.6870363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870363A>G , CM000674.2:g.6870363A>G	GRCh38
NC_000012.11:g.6979527A>G , CM000674.1:g.6979527A>G	GRCh37
NC_000012.10:g.6849788A>G	NCBI36
NG_011948.1:g.7944A>G
NG_013308.1:g.7995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.730A>G MANE Select	ENSP00000379933.4:p.Ile244Val
ENST00000229270.8:c.841A>G	ENSP00000229270.4:p.Ile281Val
ENST00000396705.9:c.730A>G	ENSP00000379933.4:p.Ile244Val
ENST00000474253.1:n.219A>G
ENST00000488464.6:c.484A>G	ENSP00000475620.1:p.Ile162Val
ENST00000535434.5:c.484A>G	ENSP00000443599.1:p.Ile162Val
ENST00000613953.4:c.841A>G	ENSP00000484435.1:p.Ile281Val
NM_000365.5:c.730A>G	NP_000356.1:p.Ile244Val
NM_001159287.1:c.841A>G	NP_001152759.1:p.Ile281Val
NM_001258026.1:c.484A>G	NP_001244955.1:p.Ile162Val
XR_002957378.1:n.1738A>G
NM_000365.6:c.730A>G MANE Select	NP_000356.1:p.Ile244Val
NM_001258026.2:c.484A>G	NP_001244955.1:p.Ile162Val