Canonical Allele Identifier: CA417543829

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 798989
• ClinVar RCV Id: RCV000982561
• dbSNP Id: rs1570593515
• MyVariant Identifiers: chr1:g.43396423A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930752A>G , CM000663.2:g.42930752A>G	GRCh38
NC_000001.10:g.43396423A>G , CM000663.1:g.43396423A>G	GRCh37
NC_000001.9:g.43169010A>G	NCBI36
NG_008232.1:g.33425T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.390T>C MANE Select	ENSP00000416293.2:p.Gly130=
ENST00000674765.1:c.390T>C	ENSP00000501811.1:p.Gly130=
ENST00000675112.1:n.413T>C
ENST00000676254.1:n.839T>C
ENST00000372500.4:c.294T>C	ENSP00000361578.4:p.Gly98=
ENST00000426263.7:c.390T>C	ENSP00000416293.2:p.Gly130=
ENST00000439722.2:c.269T>C	ENSP00000395521.2:n.269T>C
ENST00000475162.3:c.289T>C
ENST00000625233.2:n.598T>C
ENST00000630287.2:c.390T>C	ENSP00000486694.1:p.Gly130=
NM_006516.2:c.390T>C	NP_006507.2:p.Gly130=
NM_006516.3:c.390T>C	NP_006507.2:p.Gly130=
NM_006516.4:c.390T>C MANE Select	NP_006507.2:p.Gly130=