Canonical Allele Identifier: CA10611051

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297366
• ClinVar RCV Id: RCV000310110 ; RCV000401788
• dbSNP Id: rs886046336
• gnomAD v2: 1-43391962-A-T
• gnomAD v3: 1-42926291-A-T
• gnomAD v4: 1-42926291-A-T
• MyVariant Identifiers: chr1:g.43391962A>T (hg19) ; chr1:g.42926291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926291A>T , CM000663.2:g.42926291A>T	GRCh38
NC_000001.10:g.43391962A>T , CM000663.1:g.43391962A>T	GRCh37
NC_000001.9:g.43164549A>T	NCBI36
NG_008232.1:g.37886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*750T>A MANE Select	ENSP00000416293.2:n.*750T>A
ENST00000674545.1:n.2846T>A
ENST00000674765.1:c.*516T>A	ENSP00000501811.1:n.*516T>A
ENST00000675112.1:n.2530T>A
ENST00000676254.1:n.2678T>A
ENST00000426263.7:c.*750T>A	ENSP00000416293.2:n.*750T>A
ENST00000630287.2:c.*1544T>A	ENSP00000486694.1:n.*1544T>A
NM_006516.2:c.*750T>A	NP_006507.2:n.*750T>A
NM_006516.3:c.*750T>A	NP_006507.2:n.*750T>A
NM_006516.4:c.*750T>A MANE Select	NP_006507.2:n.*750T>A