Canonical Allele Identifier: CA417411952

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43408939C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943268C>A , CM000663.2:g.42943268C>A	GRCh38
NC_000001.10:g.43408939C>A , CM000663.1:g.43408939C>A	GRCh37
NC_000001.9:g.43181526C>A	NCBI36
NG_008232.1:g.20909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.72G>T MANE Select	ENSP00000416293.2:p.Leu24=
ENST00000674765.1:c.72G>T	ENSP00000501811.1:p.Leu24=
ENST00000675112.1:n.95G>T
ENST00000372500.4:c.19-12062G>T	ENSP00000361578.4:n.19-12062G>T
ENST00000415851.6:n.289G>T
ENST00000426263.7:c.72G>T	ENSP00000416293.2:p.Leu24=
ENST00000625233.2:n.280G>T
ENST00000628173.1:n.291G>T
ENST00000630287.2:c.72G>T	ENSP00000486694.1:p.Leu24=
ENST00000630821.1:n.289G>T
NM_006516.2:c.72G>T	NP_006507.2:p.Leu24=
NM_006516.3:c.72G>T	NP_006507.2:p.Leu24=
NM_006516.4:c.72G>T MANE Select	NP_006507.2:p.Leu24=