Canonical Allele Identifier: CA6418781
Gene: TPI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 310357
ClinVar RCV Id: RCV000288216
dbSNP Id: rs199634350
ExAC: 12:6976720 G / A
gnomAD v2: 12-6976720-G-A
gnomAD v3: 12-6867556-G-A
gnomAD v4: 12-6867556-G-A
MyVariant Identifiers: chr12:g.6976720G>A (hg19) chr12:g.6867556G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6867556G>A , CM000674.2:g.6867556G>A GRCh38
NC_000012.11:g.6976720G>A , CM000674.1:g.6976720G>A GRCh37
NC_000012.10:g.6846981G>A NCBI36
NG_011948.1:g.5137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.-11G>A MANE Select ENSP00000379933.4:n.-11G>A
ENST00000229270.8:c.101G>A ENSP00000229270.4:p.Gly34Asp
ENST00000396705.9:c.-11G>A ENSP00000379933.4:n.-11G>A
ENST00000613953.4:c.101G>A ENSP00000484435.1:p.Gly34Asp
NM_000365.5:c.-11G>A NP_000356.1:n.-11G>A
NM_001159287.1:c.101G>A NP_001152759.1:p.Gly34Asp
XR_002957378.1:n.723G>A
NM_000365.6:c.-11G>A MANE Select NP_000356.1:n.-11G>A
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