Canonical Allele Identifier: CA522495371

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 875726
• ClinVar RCV Id: RCV001099844 ; RCV001099845
• dbSNP Id: rs543194486
• gnomAD v2: 1-43392299-C-T
• gnomAD v3: 1-42926628-C-T
• gnomAD v4: 1-42926628-C-T
• MyVariant Identifiers: chr1:g.43392299C>T (hg19) ; chr1:g.42926628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926628C>T , CM000663.2:g.42926628C>T	GRCh38
NC_000001.10:g.43392299C>T , CM000663.1:g.43392299C>T	GRCh37
NC_000001.9:g.43164886C>T	NCBI36
NG_008232.1:g.37549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*413G>A MANE Select	ENSP00000416293.2:n.*413G>A
ENST00000674545.1:n.2509G>A
ENST00000674765.1:c.*179G>A	ENSP00000501811.1:n.*179G>A
ENST00000675112.1:n.2193G>A
ENST00000676254.1:n.2341G>A
ENST00000426263.7:c.*413G>A	ENSP00000416293.2:n.*413G>A
ENST00000630287.2:c.*1207G>A	ENSP00000486694.1:n.*1207G>A
NM_006516.2:c.*413G>A	NP_006507.2:n.*413G>A
NM_006516.3:c.*413G>A	NP_006507.2:n.*413G>A
NM_006516.4:c.*413G>A MANE Select	NP_006507.2:n.*413G>A