Canonical Allele Identifier: CA339960426

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1708118
• ClinVar RCV Id: RCV002287271
• MyVariant Identifiers: chr1:g.43396329G>C (hg19) ; chr1:g.42930658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930658G>C , CM000663.2:g.42930658G>C	GRCh38
NC_000001.10:g.43396329G>C , CM000663.1:g.43396329G>C	GRCh37
NC_000001.9:g.43168916G>C	NCBI36
NG_008232.1:g.33519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.484C>G MANE Select	ENSP00000416293.2:p.Leu162Val
ENST00000674765.1:c.484C>G	ENSP00000501811.1:p.Leu162Val
ENST00000675112.1:n.507C>G
ENST00000676254.1:n.933C>G
ENST00000426263.7:c.484C>G	ENSP00000416293.2:p.Leu162Val
ENST00000439722.2:c.363C>G	ENSP00000395521.2:n.363C>G
ENST00000475162.3:c.383C>G
ENST00000625233.2:n.692C>G
ENST00000630287.2:c.484C>G	ENSP00000486694.1:p.Leu162Val
NM_006516.2:c.484C>G	NP_006507.2:p.Leu162Val
NM_006516.3:c.484C>G	NP_006507.2:p.Leu162Val
NM_006516.4:c.484C>G MANE Select	NP_006507.2:p.Leu162Val