Canonical Allele Identifier: CA417406616

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 578712
• ClinVar RCV Id: RCV000701808
• dbSNP Id: rs1557644989
• MyVariant Identifiers: chr1:g.43393297G>A (hg19) ; chr1:g.42927626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927626G>A , CM000663.2:g.42927626G>A	GRCh38
NC_000001.10:g.43393297G>A , CM000663.1:g.43393297G>A	GRCh37
NC_000001.9:g.43165884G>A	NCBI36
NG_008232.1:g.36551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1257C>T MANE Select	ENSP00000416293.2:p.Gly419=
ENST00000674545.1:n.1874C>T
ENST00000674765.1:c.1030-769C>T	ENSP00000501811.1:n.1030-769C>T
ENST00000675112.1:n.1558C>T
ENST00000676254.1:n.1706C>T
ENST00000426263.7:c.1257C>T	ENSP00000416293.2:p.Gly419=
ENST00000475162.3:c.416-648C>T
ENST00000630287.2:c.*572C>T	ENSP00000486694.1:n.*572C>T
NM_006516.2:c.1257C>T	NP_006507.2:p.Gly419=
NM_006516.3:c.1257C>T	NP_006507.2:p.Gly419=
NM_006516.4:c.1257C>T MANE Select	NP_006507.2:p.Gly419=