Canonical Allele Identifier: CA417412071

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943298-C-T
• MyVariant Identifiers: chr1:g.43408969C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943298C>T , CM000663.2:g.42943298C>T	GRCh38
NC_000001.10:g.43408969C>T , CM000663.1:g.43408969C>T	GRCh37
NC_000001.9:g.43181556C>T	NCBI36
NG_008232.1:g.20879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.42G>A MANE Select	ENSP00000416293.2:p.Leu14=
ENST00000674765.1:c.42G>A	ENSP00000501811.1:p.Leu14=
ENST00000675112.1:n.65G>A
ENST00000372500.4:c.19-12092G>A	ENSP00000361578.4:n.19-12092G>A
ENST00000415851.6:n.259G>A
ENST00000426263.7:c.42G>A	ENSP00000416293.2:p.Leu14=
ENST00000625233.2:n.250G>A
ENST00000628173.1:n.261G>A
ENST00000630287.2:c.42G>A	ENSP00000486694.1:p.Leu14=
ENST00000630821.1:n.259G>A
NM_006516.2:c.42G>A	NP_006507.2:p.Leu14=
NM_006516.3:c.42G>A	NP_006507.2:p.Leu14=
NM_006516.4:c.42G>A MANE Select	NP_006507.2:p.Leu14=