Canonical Allele Identifier: CA16043369

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 374181
• ClinVar RCV Id: RCV000415325 ; RCV000458446 ; RCV003321586 ; RCV003445924
• dbSNP Id: rs1057518953
• MyVariant Identifiers: chr1:g.43396413C>T (hg19) ; chr1:g.42930742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930742C>T , CM000663.2:g.42930742C>T	GRCh38
NC_000001.10:g.43396413C>T , CM000663.1:g.43396413C>T	GRCh37
NC_000001.9:g.43169000C>T	NCBI36
NG_008232.1:g.33435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.400G>A MANE Select	ENSP00000416293.2:p.Gly134Ser
ENST00000674765.1:c.400G>A	ENSP00000501811.1:p.Gly134Ser
ENST00000675112.1:n.423G>A
ENST00000676254.1:n.849G>A
ENST00000372500.4:c.304G>A	ENSP00000361578.4:p.Gly102Ser
ENST00000426263.7:c.400G>A	ENSP00000416293.2:p.Gly134Ser
ENST00000439722.2:c.279G>A	ENSP00000395521.2:n.279G>A
ENST00000475162.3:c.299G>A
ENST00000625233.2:n.608G>A
ENST00000630287.2:c.400G>A	ENSP00000486694.1:p.Gly134Ser
NM_006516.2:c.400G>A	NP_006507.2:p.Gly134Ser
NM_006516.3:c.400G>A	NP_006507.2:p.Gly134Ser
NM_006516.4:c.400G>A MANE Select	NP_006507.2:p.Gly134Ser