Canonical Allele Identifier: CA318499

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207232
• ClinVar RCV Id: RCV000189400 ; RCV000648077 ; RCV003445686 ; RCV003445688 ; RCV003445684 ; RCV003445685 ; RCV003445687
• dbSNP Id: rs748340730
• ExAC: 1:43392746 A / G
• gnomAD v2: 1-43392746-A-G
• gnomAD v4: 1-42927075-A-G
• MyVariant Identifiers: chr1:g.43392746A>G (hg19) ; chr1:g.42927075A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927075A>G , CM000663.2:g.42927075A>G	GRCh38
NC_000001.10:g.43392746A>G , CM000663.1:g.43392746A>G	GRCh37
NC_000001.9:g.43165333A>G	NCBI36
NG_008232.1:g.37102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1445T>C MANE Select	ENSP00000416293.2:p.Leu482Pro
ENST00000674545.1:n.2062T>C
ENST00000674765.1:c.1030-218T>C	ENSP00000501811.1:n.1030-218T>C
ENST00000675112.1:n.1746T>C
ENST00000676254.1:n.1894T>C
ENST00000426263.7:c.1445T>C	ENSP00000416293.2:p.Leu482Pro
ENST00000475162.3:c.416-97T>C
ENST00000630287.2:c.*760T>C	ENSP00000486694.1:n.*760T>C
NM_006516.2:c.1445T>C	NP_006507.2:p.Leu482Pro
NM_006516.3:c.1445T>C	NP_006507.2:p.Leu482Pro
NM_006516.4:c.1445T>C MANE Select	NP_006507.2:p.Leu482Pro