Canonical Allele Identifier: CA019302

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 159928
• ClinVar RCV Id: RCV000147531 ; RCV000189359
• dbSNP Id: rs587784396
• MyVariant Identifiers: chr1:g.43395383G>A (hg19) ; chr1:g.42929712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929712G>A , CM000663.2:g.42929712G>A	GRCh38
NC_000001.10:g.43395383G>A , CM000663.1:g.43395383G>A	GRCh37
NC_000001.9:g.43167970G>A	NCBI36
NG_008232.1:g.34465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.748C>T MANE Select	ENSP00000416293.2:p.Gln250Ter
ENST00000669445.1:c.78C>T
ENST00000674765.1:c.748C>T	ENSP00000501811.1:p.Gln250Ter
ENST00000675112.1:n.771C>T
ENST00000676254.1:n.1197C>T
ENST00000426263.7:c.748C>T	ENSP00000416293.2:p.Gln250Ter
ENST00000439722.2:c.627C>T	ENSP00000395521.2:n.627C>T
ENST00000475162.3:c.415+914C>T
ENST00000630287.2:c.*63C>T	ENSP00000486694.1:n.*63C>T
NM_006516.2:c.748C>T	NP_006507.2:p.Gln250Ter
NM_006516.3:c.748C>T	NP_006507.2:p.Gln250Ter
NM_006516.4:c.748C>T MANE Select	NP_006507.2:p.Gln250Ter