Canonical Allele Identifier: CA339964804

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1721163
• ClinVar RCV Id: RCV002294853
• MyVariant Identifiers: chr1:g.43408934A>G (hg19) ; chr1:g.42943263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943263A>G , CM000663.2:g.42943263A>G	GRCh38
NC_000001.10:g.43408934A>G , CM000663.1:g.43408934A>G	GRCh37
NC_000001.9:g.43181521A>G	NCBI36
NG_008232.1:g.20914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.77T>C MANE Select	ENSP00000416293.2:p.Phe26Ser
ENST00000674765.1:c.77T>C	ENSP00000501811.1:p.Phe26Ser
ENST00000675112.1:n.100T>C
ENST00000372500.4:c.19-12057T>C	ENSP00000361578.4:n.19-12057T>C
ENST00000415851.6:n.294T>C
ENST00000426263.7:c.77T>C	ENSP00000416293.2:p.Phe26Ser
ENST00000625233.2:n.285T>C
ENST00000628173.1:n.296T>C
ENST00000630287.2:c.77T>C	ENSP00000486694.1:p.Phe26Ser
ENST00000630821.1:n.294T>C
NM_006516.2:c.77T>C	NP_006507.2:p.Phe26Ser
NM_006516.3:c.77T>C	NP_006507.2:p.Phe26Ser
NM_006516.4:c.77T>C MANE Select	NP_006507.2:p.Phe26Ser