Canonical Allele Identifier: CA318446

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207200
• ClinVar RCV Id: RCV000189365 ; RCV001064748 ; RCV003445647 ; RCV003445648 ; RCV003445649 ; RCV002444767 ; RCV003445650 ; RCV003401033 ; RCV003445646
• dbSNP Id: rs780528770
• gnomAD v4: 1-42929237-G-C
• MyVariant Identifiers: chr1:g.43394908G>C (hg19) ; chr1:g.42929237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929237G>C , CM000663.2:g.42929237G>C	GRCh38
NC_000001.10:g.43394908G>C , CM000663.1:g.43394908G>C	GRCh37
NC_000001.9:g.43167495G>C	NCBI36
NG_008232.1:g.34940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.945C>G MANE Select	ENSP00000416293.2:p.Ile315Met
ENST00000674545.1:n.263C>G
ENST00000674765.1:c.945C>G	ENSP00000501811.1:p.Ile315Met
ENST00000675112.1:n.1246C>G
ENST00000676254.1:n.1394C>G
ENST00000426263.7:c.945C>G	ENSP00000416293.2:p.Ile315Met
ENST00000439722.2:c.824C>G	ENSP00000395521.2:n.824C>G
ENST00000475162.3:c.415+1389C>G
ENST00000630287.2:c.*260C>G	ENSP00000486694.1:n.*260C>G
NM_006516.2:c.945C>G	NP_006507.2:p.Ile315Met
NM_006516.3:c.945C>G	NP_006507.2:p.Ile315Met
NM_006516.4:c.945C>G MANE Select	NP_006507.2:p.Ile315Met