Canonical Allele Identifier: CA339956334

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394891G>T (hg19) ; chr1:g.42929220G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.962C>A MANE Select	ENSP00000416293.2:p.Thr321Asn
ENST00000674545.1:n.280C>A
ENST00000674765.1:c.962C>A	ENSP00000501811.1:p.Thr321Asn
ENST00000675112.1:n.1263C>A
ENST00000676254.1:n.1411C>A
ENST00000426263.7:c.962C>A	ENSP00000416293.2:p.Thr321Asn
ENST00000439722.2:c.841C>A	ENSP00000395521.2:n.841C>A
ENST00000475162.3:c.415+1406C>A
ENST00000630287.2:c.*277C>A	ENSP00000486694.1:n.*277C>A
NM_006516.2:c.962C>A	NP_006507.2:p.Thr321Asn
NM_006516.3:c.962C>A	NP_006507.2:p.Thr321Asn
NM_006516.4:c.962C>A MANE Select	NP_006507.2:p.Thr321Asn