Canonical Allele Identifier: CA417543519

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643471147
• MyVariant Identifiers: chr1:g.43395674C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930003C>T , CM000663.2:g.42930003C>T	GRCh38
NC_000001.10:g.43395674C>T , CM000663.1:g.43395674C>T	GRCh37
NC_000001.9:g.43168261C>T	NCBI36
NG_008232.1:g.34174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.549G>A MANE Select	ENSP00000416293.2:p.Lys183=
ENST00000674765.1:c.549G>A	ENSP00000501811.1:p.Lys183=
ENST00000675112.1:n.572G>A
ENST00000676254.1:n.998G>A
ENST00000426263.7:c.549G>A	ENSP00000416293.2:p.Lys183=
ENST00000439722.2:c.428G>A	ENSP00000395521.2:n.428G>A
ENST00000475162.3:c.415+623G>A
ENST00000630287.2:c.517-223G>A	ENSP00000486694.1:n.517-223G>A
NM_006516.2:c.549G>A	NP_006507.2:p.Lys183=
NM_006516.3:c.549G>A	NP_006507.2:p.Lys183=
NM_006516.4:c.549G>A MANE Select	NP_006507.2:p.Lys183=