Canonical Allele Identifier: CA339964912

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43408988A>C (hg19) ; chr1:g.42943317A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943317A>C , CM000663.2:g.42943317A>C	GRCh38
NC_000001.10:g.43408988A>C , CM000663.1:g.43408988A>C	GRCh37
NC_000001.9:g.43181575A>C	NCBI36
NG_008232.1:g.20860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.23T>G MANE Select	ENSP00000416293.2:p.Leu8Arg
ENST00000674765.1:c.23T>G	ENSP00000501811.1:p.Leu8Arg
ENST00000675112.1:n.46T>G
ENST00000372500.4:c.19-12111T>G	ENSP00000361578.4:n.19-12111T>G
ENST00000415851.6:n.240T>G
ENST00000426263.7:c.23T>G	ENSP00000416293.2:p.Leu8Arg
ENST00000625233.2:n.231T>G
ENST00000628173.1:n.242T>G
ENST00000630287.2:c.23T>G	ENSP00000486694.1:p.Leu8Arg
ENST00000630821.1:n.240T>G
NM_006516.2:c.23T>G	NP_006507.2:p.Leu8Arg
NM_006516.3:c.23T>G	NP_006507.2:p.Leu8Arg
NM_006516.4:c.23T>G MANE Select	NP_006507.2:p.Leu8Arg