Canonical Allele Identifier: CA339956958

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 936997
• ClinVar RCV Id: RCV001205930
• dbSNP Id: rs1643461834
• MyVariant Identifiers: chr1:g.43394981A>G (hg19) ; chr1:g.42929310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929310A>G , CM000663.2:g.42929310A>G	GRCh38
NC_000001.10:g.43394981A>G , CM000663.1:g.43394981A>G	GRCh37
NC_000001.9:g.43167568A>G	NCBI36
NG_008232.1:g.34867T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.872T>C MANE Select	ENSP00000416293.2:p.Phe291Ser
ENST00000674545.1:n.190T>C
ENST00000674765.1:c.872T>C	ENSP00000501811.1:p.Phe291Ser
ENST00000675112.1:n.1173T>C
ENST00000676254.1:n.1321T>C
ENST00000426263.7:c.872T>C	ENSP00000416293.2:p.Phe291Ser
ENST00000439722.2:c.751T>C	ENSP00000395521.2:n.751T>C
ENST00000475162.3:c.415+1316T>C
ENST00000630287.2:c.*187T>C	ENSP00000486694.1:n.*187T>C
NM_006516.2:c.872T>C	NP_006507.2:p.Phe291Ser
NM_006516.3:c.872T>C	NP_006507.2:p.Phe291Ser
NM_006516.4:c.872T>C MANE Select	NP_006507.2:p.Phe291Ser