Canonical Allele Identifier: CA383713708

Gene: TPI1

Linked Data

• ClinVar Variation Id: 2437190
• ClinVar RCV Id: RCV003141110
• dbSNP Id: rs1437674941
• gnomAD v2: 12-6979470-C-A
• gnomAD v3: 12-6870306-C-A
• gnomAD v4: 12-6870306-C-A
• MyVariant Identifiers: chr12:g.6979470C>A (hg19) ; chr12:g.6870306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870306C>A , CM000674.2:g.6870306C>A	GRCh38
NC_000012.11:g.6979470C>A , CM000674.1:g.6979470C>A	GRCh37
NC_000012.10:g.6849731C>A	NCBI36
NG_011948.1:g.7887C>A
NG_013308.1:g.8052G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.673C>A MANE Select	ENSP00000379933.4:p.Pro225Thr
ENST00000229270.8:c.784C>A	ENSP00000229270.4:p.Pro262Thr
ENST00000396705.9:c.673C>A	ENSP00000379933.4:p.Pro225Thr
ENST00000474253.1:n.162C>A
ENST00000488464.6:c.427C>A	ENSP00000475620.1:p.Pro143Thr
ENST00000535434.5:c.427C>A	ENSP00000443599.1:p.Pro143Thr
ENST00000613953.4:c.784C>A	ENSP00000484435.1:p.Pro262Thr
NM_000365.5:c.673C>A	NP_000356.1:p.Pro225Thr
NM_001159287.1:c.784C>A	NP_001152759.1:p.Pro262Thr
NM_001258026.1:c.427C>A	NP_001244955.1:p.Pro143Thr
XR_002957378.1:n.1681C>A
NM_000365.6:c.673C>A MANE Select	NP_000356.1:p.Pro225Thr
NM_001258026.2:c.427C>A	NP_001244955.1:p.Pro143Thr