Canonical Allele Identifier: CA21251114

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2192949
• ClinVar RCV Id: RCV002607737
• dbSNP Id: rs1013744464
• gnomAD v3: 1-42929706-T-C
• gnomAD v4: 1-42929706-T-C
• MyVariant Identifiers: chr1:g.43395377T>C (hg19) ; chr1:g.42929706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929706T>C , CM000663.2:g.42929706T>C	GRCh38
NC_000001.10:g.43395377T>C , CM000663.1:g.43395377T>C	GRCh37
NC_000001.9:g.43167964T>C	NCBI36
NG_008232.1:g.34471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.754A>G MANE Select	ENSP00000416293.2:p.Met252Val
ENST00000669445.1:c.84A>G
ENST00000674765.1:c.754A>G	ENSP00000501811.1:p.Met252Val
ENST00000675112.1:n.777A>G
ENST00000676254.1:n.1203A>G
ENST00000426263.7:c.754A>G	ENSP00000416293.2:p.Met252Val
ENST00000439722.2:c.633A>G	ENSP00000395521.2:n.633A>G
ENST00000475162.3:c.415+920A>G
ENST00000630287.2:c.*69A>G	ENSP00000486694.1:n.*69A>G
NM_006516.2:c.754A>G	NP_006507.2:p.Met252Val
NM_006516.3:c.754A>G	NP_006507.2:p.Met252Val
NM_006516.4:c.754A>G MANE Select	NP_006507.2:p.Met252Val