Canonical Allele Identifier: CA21249269

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2197179
• ClinVar RCV Id: RCV002651273
• dbSNP Id: rs932071383
• MyVariant Identifiers: chr1:g.43393483T>G (hg19) ; chr1:g.42927812T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927812T>G , CM000663.2:g.42927812T>G	GRCh38
NC_000001.10:g.43393483T>G , CM000663.1:g.43393483T>G	GRCh37
NC_000001.9:g.43166070T>G	NCBI36
NG_008232.1:g.36365A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-4A>C MANE Select	ENSP00000416293.2:n.1075-4A>C
ENST00000674545.1:n.1688A>C
ENST00000674765.1:c.1030-955A>C	ENSP00000501811.1:n.1030-955A>C
ENST00000675112.1:n.1376-4A>C
ENST00000676254.1:n.1524-4A>C
ENST00000426263.7:c.1075-4A>C	ENSP00000416293.2:n.1075-4A>C
ENST00000475162.3:c.416-834A>C
ENST00000630287.2:c.*390-4A>C	ENSP00000486694.1:n.*390-4A>C
NM_006516.2:c.1075-4A>C	NP_006507.2:n.1075-4A>C
NM_006516.3:c.1075-4A>C	NP_006507.2:n.1075-4A>C
NM_006516.4:c.1075-4A>C MANE Select	NP_006507.2:n.1075-4A>C