Canonical Allele Identifier: CA10611068

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297372
• ClinVar RCV Id: RCV000268465 ; RCV000325854 ; RCV003409450 ; RCV003445885 ; RCV003445883 ; RCV003445884
• dbSNP Id: rs545613558
• gnomAD v2: 1-43392152-A-G
• gnomAD v3: 1-42926481-A-G
• gnomAD v4: 1-42926481-A-G
• MyVariant Identifiers: chr1:g.43392152A>G (hg19) ; chr1:g.42926481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926481A>G , CM000663.2:g.42926481A>G	GRCh38
NC_000001.10:g.43392152A>G , CM000663.1:g.43392152A>G	GRCh37
NC_000001.9:g.43164739A>G	NCBI36
NG_008232.1:g.37696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*560T>C MANE Select	ENSP00000416293.2:n.*560T>C
ENST00000674545.1:n.2656T>C
ENST00000674765.1:c.*326T>C	ENSP00000501811.1:n.*326T>C
ENST00000675112.1:n.2340T>C
ENST00000676254.1:n.2488T>C
ENST00000426263.7:c.*560T>C	ENSP00000416293.2:n.*560T>C
ENST00000630287.2:c.*1354T>C	ENSP00000486694.1:n.*1354T>C
NM_006516.2:c.*560T>C	NP_006507.2:n.*560T>C
NM_006516.3:c.*560T>C	NP_006507.2:n.*560T>C
NM_006516.4:c.*560T>C MANE Select	NP_006507.2:n.*560T>C