Canonical Allele Identifier: CA318427

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207190
• ClinVar RCV Id: RCV000189352
• dbSNP Id: rs80359819
• gnomAD v3: 1-42930754-C-G
• gnomAD v4: 1-42930754-C-G
• MyVariant Identifiers: chr1:g.43396425C>G (hg19) ; chr1:g.42930754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930754C>G , CM000663.2:g.42930754C>G	GRCh38
NC_000001.10:g.43396425C>G , CM000663.1:g.43396425C>G	GRCh37
NC_000001.9:g.43169012C>G	NCBI36
NG_008232.1:g.33423G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.388G>C MANE Select	ENSP00000416293.2:p.Gly130Arg
ENST00000674765.1:c.388G>C	ENSP00000501811.1:p.Gly130Arg
ENST00000675112.1:n.411G>C
ENST00000676254.1:n.837G>C
ENST00000372500.4:c.292G>C	ENSP00000361578.4:p.Gly98Arg
ENST00000426263.7:c.388G>C	ENSP00000416293.2:p.Gly130Arg
ENST00000439722.2:c.267G>C	ENSP00000395521.2:n.267G>C
ENST00000475162.3:c.287G>C
ENST00000625233.2:n.596G>C
ENST00000630287.2:c.388G>C	ENSP00000486694.1:p.Gly130Arg
NM_006516.2:c.388G>C	NP_006507.2:p.Gly130Arg
NM_006516.3:c.388G>C	NP_006507.2:p.Gly130Arg
NM_006516.4:c.388G>C MANE Select	NP_006507.2:p.Gly130Arg