Canonical Allele Identifier: CA10611224

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297365
• ClinVar RCV Id: RCV000287535 ; RCV000344883
• dbSNP Id: rs886046335
• gnomAD v2: 1-43391928-T-C
• gnomAD v3: 1-42926257-T-C
• gnomAD v4: 1-42926257-T-C
• MyVariant Identifiers: chr1:g.43391928T>C (hg19) ; chr1:g.42926257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926257T>C , CM000663.2:g.42926257T>C	GRCh38
NC_000001.10:g.43391928T>C , CM000663.1:g.43391928T>C	GRCh37
NC_000001.9:g.43164515T>C	NCBI36
NG_008232.1:g.37920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*784A>G MANE Select	ENSP00000416293.2:n.*784A>G
ENST00000674545.1:n.2880A>G
ENST00000674765.1:c.*550A>G	ENSP00000501811.1:n.*550A>G
ENST00000675112.1:n.2564A>G
ENST00000676254.1:n.2712A>G
ENST00000426263.7:c.*784A>G	ENSP00000416293.2:n.*784A>G
ENST00000630287.2:c.*1578A>G	ENSP00000486694.1:n.*1578A>G
NM_006516.2:c.*784A>G	NP_006507.2:n.*784A>G
NM_006516.3:c.*784A>G	NP_006507.2:n.*784A>G
NM_006516.4:c.*784A>G MANE Select	NP_006507.2:n.*784A>G