Canonical Allele Identifier: CA339954494

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42927807-T-C
• MyVariant Identifiers: chr1:g.43393478T>C (hg19) ; chr1:g.42927807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927807T>C , CM000663.2:g.42927807T>C	GRCh38
NC_000001.10:g.43393478T>C , CM000663.1:g.43393478T>C	GRCh37
NC_000001.9:g.43166065T>C	NCBI36
NG_008232.1:g.36370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1076A>G MANE Select	ENSP00000416293.2:p.Glu359Gly
ENST00000674545.1:n.1693A>G
ENST00000674765.1:c.1030-950A>G	ENSP00000501811.1:n.1030-950A>G
ENST00000675112.1:n.1377A>G
ENST00000676254.1:n.1525A>G
ENST00000426263.7:c.1076A>G	ENSP00000416293.2:p.Glu359Gly
ENST00000475162.3:c.416-829A>G
ENST00000630287.2:c.*391A>G	ENSP00000486694.1:n.*391A>G
NM_006516.2:c.1076A>G	NP_006507.2:p.Glu359Gly
NM_006516.3:c.1076A>G	NP_006507.2:p.Glu359Gly
NM_006516.4:c.1076A>G MANE Select	NP_006507.2:p.Glu359Gly