Canonical Allele Identifier: CA339958430

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1699946
• ClinVar RCV Id: RCV002273876
• dbSNP Id: rs1553156086
• MyVariant Identifiers: chr1:g.43395543C>T (hg19) ; chr1:g.42929872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929872C>T , CM000663.2:g.42929872C>T	GRCh38
NC_000001.10:g.43395543C>T , CM000663.1:g.43395543C>T	GRCh37
NC_000001.9:g.43168130C>T	NCBI36
NG_008232.1:g.34305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.679+1G>A MANE Select	ENSP00000416293.2:n.679+1G>A
ENST00000669445.1:c.56+1G>A
ENST00000674765.1:c.679+1G>A	ENSP00000501811.1:n.679+1G>A
ENST00000675112.1:n.702+1G>A
ENST00000676254.1:n.1128+1G>A
ENST00000426263.7:c.679+1G>A	ENSP00000416293.2:n.679+1G>A
ENST00000439722.2:c.558+1G>A	ENSP00000395521.2:n.558+1G>A
ENST00000475162.3:c.415+754G>A
ENST00000630287.2:c.517-92G>A	ENSP00000486694.1:n.517-92G>A
NM_006516.2:c.679+1G>A	NP_006507.2:n.679+1G>A
NM_006516.3:c.679+1G>A	NP_006507.2:n.679+1G>A
NM_006516.4:c.679+1G>A MANE Select	NP_006507.2:n.679+1G>A