Canonical Allele Identifier: CA21252047
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 943804
ClinVar RCV Id: RCV001214071 RCV002287482 RCV003446652 RCV003163632 RCV003446650 RCV003446649 RCV003446651
dbSNP Id: rs987202561
gnomAD v3: 1-42930750-A-G
gnomAD v4: 1-42930750-A-G
MyVariant Identifiers: chr1:g.43396421A>G (hg19) chr1:g.42930750A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930750A>G , CM000663.2:g.42930750A>G GRCh38
NC_000001.10:g.43396421A>G , CM000663.1:g.43396421A>G GRCh37
NC_000001.9:g.43169008A>G NCBI36
NG_008232.1:g.33427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.392T>C MANE Select ENSP00000416293.2:p.Val131Ala
ENST00000674765.1:c.392T>C ENSP00000501811.1:p.Val131Ala
ENST00000675112.1:n.415T>C
ENST00000676254.1:n.841T>C
ENST00000372500.4:c.296T>C ENSP00000361578.4:p.Val99Ala
ENST00000426263.7:c.392T>C ENSP00000416293.2:p.Val131Ala
ENST00000439722.2:c.271T>C ENSP00000395521.2:n.271T>C
ENST00000475162.3:c.291T>C
ENST00000625233.2:n.600T>C
ENST00000630287.2:c.392T>C ENSP00000486694.1:p.Val131Ala
NM_006516.2:c.392T>C NP_006507.2:p.Val131Ala
NM_006516.3:c.392T>C NP_006507.2:p.Val131Ala
NM_006516.4:c.392T>C MANE Select NP_006507.2:p.Val131Ala
Search 100 bp 5'
Search 100 bp 3'