Canonical Allele Identifier: CA339956328

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2772568
• ClinVar RCV Id: RCV003517849
• gnomAD v4: 1-42929220-G-A
• MyVariant Identifiers: chr1:g.43394891G>A (hg19) ; chr1:g.42929220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929220G>A , CM000663.2:g.42929220G>A	GRCh38
NC_000001.10:g.43394891G>A , CM000663.1:g.43394891G>A	GRCh37
NC_000001.9:g.43167478G>A	NCBI36
NG_008232.1:g.34957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.962C>T MANE Select	ENSP00000416293.2:p.Thr321Ile
ENST00000674545.1:n.280C>T
ENST00000674765.1:c.962C>T	ENSP00000501811.1:p.Thr321Ile
ENST00000675112.1:n.1263C>T
ENST00000676254.1:n.1411C>T
ENST00000426263.7:c.962C>T	ENSP00000416293.2:p.Thr321Ile
ENST00000439722.2:c.841C>T	ENSP00000395521.2:n.841C>T
ENST00000475162.3:c.415+1406C>T
ENST00000630287.2:c.*277C>T	ENSP00000486694.1:n.*277C>T
NM_006516.2:c.962C>T	NP_006507.2:p.Thr321Ile
NM_006516.3:c.962C>T	NP_006507.2:p.Thr321Ile
NM_006516.4:c.962C>T MANE Select	NP_006507.2:p.Thr321Ile