Canonical Allele Identifier: CA16603688
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383454
ClinVar RCV Id: RCV000442546
dbSNP Id: rs1057521632

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927735G>A , CM000663.2:g.42927735G>A GRCh38
NC_000001.10:g.43393406G>A , CM000663.1:g.43393406G>A GRCh37
NC_000001.9:g.43165993G>A NCBI36
NG_008232.1:g.36442C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.1148C>T MANE Select ENSP00000416293.2:p.Pro383Leu
ENST00000674545.1:n.1765C>T
ENST00000674765.1:c.1030-878C>T ENSP00000501811.1:n.1030-878C>T
ENST00000675112.1:n.1449C>T
ENST00000676254.1:n.1597C>T
ENST00000426263.7:c.1148C>T ENSP00000416293.2:p.Pro383Leu
ENST00000475162.3:c.416-757C>T
ENST00000630287.2:c.*463C>T ENSP00000486694.1:n.*463C>T
NM_006516.2:c.1148C>T NP_006507.2:p.Pro383Leu
NM_006516.3:c.1148C>T NP_006507.2:p.Pro383Leu
NM_006516.4:c.1148C>T MANE Select NP_006507.2:p.Pro383Leu