Canonical Allele Identifier: CA318444

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207199
• ClinVar RCV Id: RCV000363287 ; RCV000463634 ; RCV000306227 ; RCV001721222 ; RCV002317646
• dbSNP Id: rs148518827
• ExAC: 1:43394958 C / T
• gnomAD v2: 1-43394958-C-T
• gnomAD v3: 1-42929287-C-T
• gnomAD v4: 1-42929287-C-T
• MyVariant Identifiers: chr1:g.43394958C>T (hg19) ; chr1:g.42929287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929287C>T , CM000663.2:g.42929287C>T	GRCh38
NC_000001.10:g.43394958C>T , CM000663.1:g.43394958C>T	GRCh37
NC_000001.9:g.43167545C>T	NCBI36
NG_008232.1:g.34890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.895G>A MANE Select	ENSP00000416293.2:p.Glu299Lys
ENST00000674545.1:n.213G>A
ENST00000674765.1:c.895G>A	ENSP00000501811.1:p.Glu299Lys
ENST00000675112.1:n.1196G>A
ENST00000676254.1:n.1344G>A
ENST00000426263.7:c.895G>A	ENSP00000416293.2:p.Glu299Lys
ENST00000439722.2:c.774G>A	ENSP00000395521.2:n.774G>A
ENST00000475162.3:c.415+1339G>A
ENST00000630287.2:c.*210G>A	ENSP00000486694.1:n.*210G>A
NM_006516.2:c.895G>A	NP_006507.2:p.Glu299Lys
NM_006516.3:c.895G>A	NP_006507.2:p.Glu299Lys
NM_006516.4:c.895G>A MANE Select	NP_006507.2:p.Glu299Lys