Canonical Allele Identifier: CA339953883

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393366G>T (hg19) ; chr1:g.42927695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927695G>T , CM000663.2:g.42927695G>T	GRCh38
NC_000001.10:g.43393366G>T , CM000663.1:g.43393366G>T	GRCh37
NC_000001.9:g.43165953G>T	NCBI36
NG_008232.1:g.36482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1188C>A MANE Select	ENSP00000416293.2:p.Ser396Arg
ENST00000674545.1:n.1805C>A
ENST00000674765.1:c.1030-838C>A	ENSP00000501811.1:n.1030-838C>A
ENST00000675112.1:n.1489C>A
ENST00000676254.1:n.1637C>A
ENST00000426263.7:c.1188C>A	ENSP00000416293.2:p.Ser396Arg
ENST00000475162.3:c.416-717C>A
ENST00000630287.2:c.*503C>A	ENSP00000486694.1:n.*503C>A
NM_006516.2:c.1188C>A	NP_006507.2:p.Ser396Arg
NM_006516.3:c.1188C>A	NP_006507.2:p.Ser396Arg
NM_006516.4:c.1188C>A MANE Select	NP_006507.2:p.Ser396Arg