Canonical Allele Identifier: CA339956879

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2088592
• ClinVar RCV Id: RCV003002945
• dbSNP Id: rs1643461608
• MyVariant Identifiers: chr1:g.43394964T>C (hg19) ; chr1:g.42929293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929293T>C , CM000663.2:g.42929293T>C	GRCh38
NC_000001.10:g.43394964T>C , CM000663.1:g.43394964T>C	GRCh37
NC_000001.9:g.43167551T>C	NCBI36
NG_008232.1:g.34884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.889A>G MANE Select	ENSP00000416293.2:p.Ile297Val
ENST00000674545.1:n.207A>G
ENST00000674765.1:c.889A>G	ENSP00000501811.1:p.Ile297Val
ENST00000675112.1:n.1190A>G
ENST00000676254.1:n.1338A>G
ENST00000426263.7:c.889A>G	ENSP00000416293.2:p.Ile297Val
ENST00000439722.2:c.768A>G	ENSP00000395521.2:n.768A>G
ENST00000475162.3:c.415+1333A>G
ENST00000630287.2:c.*204A>G	ENSP00000486694.1:n.*204A>G
NM_006516.2:c.889A>G	NP_006507.2:p.Ile297Val
NM_006516.3:c.889A>G	NP_006507.2:p.Ile297Val
NM_006516.4:c.889A>G MANE Select	NP_006507.2:p.Ile297Val