Canonical Allele Identifier: CA339954499

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1391601
• ClinVar RCV Id: RCV001893165
• dbSNP Id: rs1643443798
• MyVariant Identifiers: chr1:g.43393479C>A (hg19) ; chr1:g.42927808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927808C>A , CM000663.2:g.42927808C>A	GRCh38
NC_000001.10:g.43393479C>A , CM000663.1:g.43393479C>A	GRCh37
NC_000001.9:g.43166066C>A	NCBI36
NG_008232.1:g.36369G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075G>T MANE Select	ENSP00000416293.2:p.Glu359Ter
ENST00000674545.1:n.1692G>T
ENST00000674765.1:c.1030-951G>T	ENSP00000501811.1:n.1030-951G>T
ENST00000675112.1:n.1376G>T
ENST00000676254.1:n.1524G>T
ENST00000426263.7:c.1075G>T	ENSP00000416293.2:p.Glu359Ter
ENST00000475162.3:c.416-830G>T
ENST00000630287.2:c.*390G>T	ENSP00000486694.1:n.*390G>T
NM_006516.2:c.1075G>T	NP_006507.2:p.Glu359Ter
NM_006516.3:c.1075G>T	NP_006507.2:p.Glu359Ter
NM_006516.4:c.1075G>T MANE Select	NP_006507.2:p.Glu359Ter