Canonical Allele Identifier: CA339957297

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1701104
• ClinVar RCV Id: RCV002276350
• dbSNP Id: rs2124448843
• MyVariant Identifiers: chr1:g.43395295T>A (hg19) ; chr1:g.42929624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929624T>A , CM000663.2:g.42929624T>A	GRCh38
NC_000001.10:g.43395295T>A , CM000663.1:g.43395295T>A	GRCh37
NC_000001.9:g.43167882T>A	NCBI36
NG_008232.1:g.34553A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.836A>T MANE Select	ENSP00000416293.2:p.Gln279Leu
ENST00000674765.1:c.836A>T	ENSP00000501811.1:p.Gln279Leu
ENST00000675112.1:n.859A>T
ENST00000676254.1:n.1285A>T
ENST00000426263.7:c.836A>T	ENSP00000416293.2:p.Gln279Leu
ENST00000439722.2:c.715A>T	ENSP00000395521.2:n.715A>T
ENST00000475162.3:c.415+1002A>T
ENST00000630287.2:c.*151A>T	ENSP00000486694.1:n.*151A>T
NM_006516.2:c.836A>T	NP_006507.2:p.Gln279Leu
NM_006516.3:c.836A>T	NP_006507.2:p.Gln279Leu
NM_006516.4:c.836A>T MANE Select	NP_006507.2:p.Gln279Leu