Canonical Allele Identifier: CA21252032

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1686713
• ClinVar RCV Id: RCV002247225
• dbSNP Id: rs80359820
• MyVariant Identifiers: chr1:g.43396377C>T (hg19) ; chr1:g.42930706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930706C>T , CM000663.2:g.42930706C>T	GRCh38
NC_000001.10:g.43396377C>T , CM000663.1:g.43396377C>T	GRCh37
NC_000001.9:g.43168964C>T	NCBI36
NG_008232.1:g.33471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.436G>A MANE Select	ENSP00000416293.2:p.Glu146Lys
ENST00000674765.1:c.436G>A	ENSP00000501811.1:p.Glu146Lys
ENST00000675112.1:n.459G>A
ENST00000676254.1:n.885G>A
ENST00000372500.4:c.340G>A	ENSP00000361578.4:p.Glu114Lys
ENST00000426263.7:c.436G>A	ENSP00000416293.2:p.Glu146Lys
ENST00000439722.2:c.315G>A	ENSP00000395521.2:n.315G>A
ENST00000475162.3:c.335G>A
ENST00000625233.2:n.644G>A
ENST00000630287.2:c.436G>A	ENSP00000486694.1:p.Glu146Lys
NM_006516.2:c.436G>A	NP_006507.2:p.Glu146Lys
NM_006516.3:c.436G>A	NP_006507.2:p.Glu146Lys
NM_006516.4:c.436G>A MANE Select	NP_006507.2:p.Glu146Lys