Canonical Allele Identifier: CA417409321

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395303C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929632C>T , CM000663.2:g.42929632C>T	GRCh38
NC_000001.10:g.43395303C>T , CM000663.1:g.43395303C>T	GRCh37
NC_000001.9:g.43167890C>T	NCBI36
NG_008232.1:g.34545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.828G>A MANE Select	ENSP00000416293.2:p.Val276=
ENST00000674765.1:c.828G>A	ENSP00000501811.1:p.Val276=
ENST00000675112.1:n.851G>A
ENST00000676254.1:n.1277G>A
ENST00000426263.7:c.828G>A	ENSP00000416293.2:p.Val276=
ENST00000439722.2:c.707G>A	ENSP00000395521.2:n.707G>A
ENST00000475162.3:c.415+994G>A
ENST00000630287.2:c.*143G>A	ENSP00000486694.1:n.*143G>A
NM_006516.2:c.828G>A	NP_006507.2:p.Val276=
NM_006516.3:c.828G>A	NP_006507.2:p.Val276=
NM_006516.4:c.828G>A MANE Select	NP_006507.2:p.Val276=