Canonical Allele Identifier: CA213395

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 218333
• ClinVar RCV Id: RCV000202596 ; RCV003221858
• dbSNP Id: rs864309514
• MyVariant Identifiers: chr1:g.43395274C>T (hg19) ; chr1:g.42929603C>T (hg38)
• PubMed: PMID:15180870 ; PMID:21791420

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929603C>T , CM000663.2:g.42929603C>T	GRCh38
NC_000001.10:g.43395274C>T , CM000663.1:g.43395274C>T	GRCh37
NC_000001.9:g.43167861C>T	NCBI36
NG_008232.1:g.34574G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.857G>A MANE Select	ENSP00000416293.2:p.Gly286Asp
ENST00000674765.1:c.857G>A	ENSP00000501811.1:p.Gly286Asp
ENST00000675112.1:n.880G>A
ENST00000676254.1:n.1306G>A
ENST00000426263.7:c.857G>A	ENSP00000416293.2:p.Gly286Asp
ENST00000439722.2:c.736G>A	ENSP00000395521.2:n.736G>A
ENST00000475162.3:c.415+1023G>A
ENST00000630287.2:c.*172G>A	ENSP00000486694.1:n.*172G>A
NM_006516.2:c.857G>A	NP_006507.2:p.Gly286Asp
NM_006516.3:c.857G>A	NP_006507.2:p.Gly286Asp
NM_006516.4:c.857G>A MANE Select	NP_006507.2:p.Gly286Asp