Canonical Allele Identifier: CA417412074

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1359788752
• gnomAD v2: 1-43408971-G-A
• gnomAD v4: 1-42943300-G-A
• MyVariant Identifiers: chr1:g.43408971G>A (hg19) ; chr1:g.42943300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943300G>A , CM000663.2:g.42943300G>A	GRCh38
NC_000001.10:g.43408971G>A , CM000663.1:g.43408971G>A	GRCh37
NC_000001.9:g.43181558G>A	NCBI36
NG_008232.1:g.20877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.40C>T MANE Select	ENSP00000416293.2:p.Leu14=
ENST00000674765.1:c.40C>T	ENSP00000501811.1:p.Leu14=
ENST00000675112.1:n.63C>T
ENST00000372500.4:c.19-12094C>T	ENSP00000361578.4:n.19-12094C>T
ENST00000415851.6:n.257C>T
ENST00000426263.7:c.40C>T	ENSP00000416293.2:p.Leu14=
ENST00000625233.2:n.248C>T
ENST00000628173.1:n.259C>T
ENST00000630287.2:c.40C>T	ENSP00000486694.1:p.Leu14=
ENST00000630821.1:n.257C>T
NM_006516.2:c.40C>T	NP_006507.2:p.Leu14=
NM_006516.3:c.40C>T	NP_006507.2:p.Leu14=
NM_006516.4:c.40C>T MANE Select	NP_006507.2:p.Leu14=