Canonical Allele Identifier: CA339958082

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1717706
• ClinVar RCV Id: RCV002297731
• MyVariant Identifiers: chr1:g.43395401T>C (hg19) ; chr1:g.42929730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929730T>C , CM000663.2:g.42929730T>C	GRCh38
NC_000001.10:g.43395401T>C , CM000663.1:g.43395401T>C	GRCh37
NC_000001.9:g.43167988T>C	NCBI36
NG_008232.1:g.34447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.730A>G MANE Select	ENSP00000416293.2:p.Met244Val
ENST00000669445.1:c.60A>G
ENST00000674765.1:c.730A>G	ENSP00000501811.1:p.Met244Val
ENST00000675112.1:n.753A>G
ENST00000676254.1:n.1179A>G
ENST00000426263.7:c.730A>G	ENSP00000416293.2:p.Met244Val
ENST00000439722.2:c.609A>G	ENSP00000395521.2:n.609A>G
ENST00000475162.3:c.415+896A>G
ENST00000630287.2:c.*45A>G	ENSP00000486694.1:n.*45A>G
NM_006516.2:c.730A>G	NP_006507.2:p.Met244Val
NM_006516.3:c.730A>G	NP_006507.2:p.Met244Val
NM_006516.4:c.730A>G MANE Select	NP_006507.2:p.Met244Val