Canonical Allele Identifier: CA6419052
Gene: TPI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883010
ClinVar RCV Id: RCV001113135
dbSNP Id: rs12692
ExAC: 12:6979586 G / A
gnomAD v2: 12-6979586-G-A
gnomAD v3: 12-6870422-G-A
gnomAD v4: 12-6870422-G-A
MyVariant Identifiers: chr12:g.6979586G>A (hg19) chr12:g.6870422G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870422G>A , CM000674.2:g.6870422G>A GRCh38
NC_000012.11:g.6979586G>A , CM000674.1:g.6979586G>A GRCh37
NC_000012.10:g.6849847G>A NCBI36
NG_011948.1:g.8003G>A
NG_013308.1:g.7936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*39G>A MANE Select ENSP00000379933.4:n.*39G>A
ENST00000229270.8:c.*39G>A ENSP00000229270.4:n.*39G>A
ENST00000396705.9:c.*39G>A ENSP00000379933.4:n.*39G>A
ENST00000474253.1:n.278G>A
ENST00000535434.5:c.*39G>A ENSP00000443599.1:n.*39G>A
ENST00000613953.4:c.*39G>A ENSP00000484435.1:n.*39G>A
NM_000365.5:c.*39G>A NP_000356.1:n.*39G>A
NM_001159287.1:c.*39G>A NP_001152759.1:n.*39G>A
NM_001258026.1:c.*39G>A NP_001244955.1:n.*39G>A
XR_002957378.1:n.1797G>A
NM_000365.6:c.*39G>A MANE Select NP_000356.1:n.*39G>A
NM_001258026.2:c.*39G>A NP_001244955.1:n.*39G>A
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