Canonical Allele Identifier: CA277218

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207229
• ClinVar RCV Id: RCV000193872 ; RCV000189397 ; RCV001380032 ; RCV002272166
• dbSNP Id: rs80359823
• MyVariant Identifiers: chr1:g.43394969G>A (hg19) ; chr1:g.42929298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929298G>A , CM000663.2:g.42929298G>A	GRCh38
NC_000001.10:g.43394969G>A , CM000663.1:g.43394969G>A	GRCh37
NC_000001.9:g.43167556G>A	NCBI36
NG_008232.1:g.34879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.884C>T MANE Select	ENSP00000416293.2:p.Thr295Met
ENST00000674545.1:n.202C>T
ENST00000674765.1:c.884C>T	ENSP00000501811.1:p.Thr295Met
ENST00000675112.1:n.1185C>T
ENST00000676254.1:n.1333C>T
ENST00000426263.7:c.884C>T	ENSP00000416293.2:p.Thr295Met
ENST00000439722.2:c.763C>T	ENSP00000395521.2:n.763C>T
ENST00000475162.3:c.415+1328C>T
ENST00000630287.2:c.*199C>T	ENSP00000486694.1:n.*199C>T
NM_006516.2:c.884C>T	NP_006507.2:p.Thr295Met
NM_006516.3:c.884C>T	NP_006507.2:p.Thr295Met
NM_006516.4:c.884C>T MANE Select	NP_006507.2:p.Thr295Met