Canonical Allele Identifier: CA658795442

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 521457
• ClinVar RCV Id: RCV000623511 ; RCV000731754 ; RCV001043469 ; RCV003446271
• dbSNP Id: rs1259158687
• MyVariant Identifiers: chr1:g.43395462C>T (hg19) ; chr1:g.42929791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929791C>T , CM000663.2:g.42929791C>T	GRCh38
NC_000001.10:g.43395462C>T , CM000663.1:g.43395462C>T	GRCh37
NC_000001.9:g.43168049C>T	NCBI36
NG_008232.1:g.34386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.680-11G>A MANE Select	ENSP00000416293.2:n.680-11G>A
ENST00000669445.1:c.57-58G>A
ENST00000674765.1:c.680-11G>A	ENSP00000501811.1:n.680-11G>A
ENST00000675112.1:n.703-11G>A
ENST00000676254.1:n.1129-11G>A
ENST00000426263.7:c.680-11G>A	ENSP00000416293.2:n.680-11G>A
ENST00000439722.2:c.559-11G>A	ENSP00000395521.2:n.559-11G>A
ENST00000475162.3:c.415+835G>A
ENST00000630287.2:c.517-11G>A	ENSP00000486694.1:n.517-11G>A
NM_006516.2:c.680-11G>A	NP_006507.2:n.680-11G>A
NM_006516.3:c.680-11G>A	NP_006507.2:n.680-11G>A
NM_006516.4:c.680-11G>A MANE Select	NP_006507.2:n.680-11G>A