Canonical Allele Identifier: CA339956815

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1437184
• ClinVar RCV Id: RCV001933932
• dbSNP Id: rs2124448369
• MyVariant Identifiers: chr1:g.43394955T>A (hg19) ; chr1:g.42929284T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929284T>A , CM000663.2:g.42929284T>A	GRCh38
NC_000001.10:g.43394955T>A , CM000663.1:g.43394955T>A	GRCh37
NC_000001.9:g.43167542T>A	NCBI36
NG_008232.1:g.34893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.898A>T MANE Select	ENSP00000416293.2:p.Lys300Ter
ENST00000674545.1:n.216A>T
ENST00000674765.1:c.898A>T	ENSP00000501811.1:p.Lys300Ter
ENST00000675112.1:n.1199A>T
ENST00000676254.1:n.1347A>T
ENST00000426263.7:c.898A>T	ENSP00000416293.2:p.Lys300Ter
ENST00000439722.2:c.777A>T	ENSP00000395521.2:n.777A>T
ENST00000475162.3:c.415+1342A>T
ENST00000630287.2:c.*213A>T	ENSP00000486694.1:n.*213A>T
NM_006516.2:c.898A>T	NP_006507.2:p.Lys300Ter
NM_006516.3:c.898A>T	NP_006507.2:p.Lys300Ter
NM_006516.4:c.898A>T MANE Select	NP_006507.2:p.Lys300Ter