Canonical Allele Identifier: CA339964790

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943256-G-T
• MyVariant Identifiers: chr1:g.43408927G>T (hg19) ; chr1:g.42943256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943256G>T , CM000663.2:g.42943256G>T	GRCh38
NC_000001.10:g.43408927G>T , CM000663.1:g.43408927G>T	GRCh37
NC_000001.9:g.43181514G>T	NCBI36
NG_008232.1:g.20921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.84C>A MANE Select	ENSP00000416293.2:p.Tyr28Ter
ENST00000674765.1:c.84C>A	ENSP00000501811.1:p.Tyr28Ter
ENST00000675112.1:n.107C>A
ENST00000372500.4:c.19-12050C>A	ENSP00000361578.4:n.19-12050C>A
ENST00000415851.6:n.301C>A
ENST00000426263.7:c.84C>A	ENSP00000416293.2:p.Tyr28Ter
ENST00000625233.2:n.292C>A
ENST00000628173.1:n.303C>A
ENST00000630287.2:c.84C>A	ENSP00000486694.1:p.Tyr28Ter
ENST00000630821.1:n.301C>A
NM_006516.2:c.84C>A	NP_006507.2:p.Tyr28Ter
NM_006516.3:c.84C>A	NP_006507.2:p.Tyr28Ter
NM_006516.4:c.84C>A MANE Select	NP_006507.2:p.Tyr28Ter