Canonical Allele Identifier: CA339964861

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 436754
• ClinVar RCV Id: RCV000502046
• dbSNP Id: rs1345986424
• MyVariant Identifiers: chr1:g.43408962C>A (hg19) ; chr1:g.42943291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943291C>A , CM000663.2:g.42943291C>A	GRCh38
NC_000001.10:g.43408962C>A , CM000663.1:g.43408962C>A	GRCh37
NC_000001.9:g.43181549C>A	NCBI36
NG_008232.1:g.20886G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.49G>T MANE Select	ENSP00000416293.2:p.Gly17Ter
ENST00000674765.1:c.49G>T	ENSP00000501811.1:p.Gly17Ter
ENST00000675112.1:n.72G>T
ENST00000372500.4:c.19-12085G>T	ENSP00000361578.4:n.19-12085G>T
ENST00000415851.6:n.266G>T
ENST00000426263.7:c.49G>T	ENSP00000416293.2:p.Gly17Ter
ENST00000625233.2:n.257G>T
ENST00000628173.1:n.268G>T
ENST00000630287.2:c.49G>T	ENSP00000486694.1:p.Gly17Ter
ENST00000630821.1:n.266G>T
NM_006516.2:c.49G>T	NP_006507.2:p.Gly17Ter
NM_006516.3:c.49G>T	NP_006507.2:p.Gly17Ter
NM_006516.4:c.49G>T MANE Select	NP_006507.2:p.Gly17Ter