Canonical Allele Identifier: CA417409281

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 511516
• ClinVar RCV Id: RCV000614910
• dbSNP Id: rs1553156049
• gnomAD v4: 1-42929608-C-T
• MyVariant Identifiers: chr1:g.43395279C>T (hg19) ; chr1:g.42929608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929608C>T , CM000663.2:g.42929608C>T	GRCh38
NC_000001.10:g.43395279C>T , CM000663.1:g.43395279C>T	GRCh37
NC_000001.9:g.43167866C>T	NCBI36
NG_008232.1:g.34569G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.852G>A MANE Select	ENSP00000416293.2:p.Leu284=
ENST00000674765.1:c.852G>A	ENSP00000501811.1:p.Leu284=
ENST00000675112.1:n.875G>A
ENST00000676254.1:n.1301G>A
ENST00000426263.7:c.852G>A	ENSP00000416293.2:p.Leu284=
ENST00000439722.2:c.731G>A	ENSP00000395521.2:n.731G>A
ENST00000475162.3:c.415+1018G>A
ENST00000630287.2:c.*167G>A	ENSP00000486694.1:n.*167G>A
NM_006516.2:c.852G>A	NP_006507.2:p.Leu284=
NM_006516.3:c.852G>A	NP_006507.2:p.Leu284=
NM_006516.4:c.852G>A MANE Select	NP_006507.2:p.Leu284=