Canonical Allele Identifier: CA339964750

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 666289
• ClinVar RCV Id: RCV000824820
• dbSNP Id: rs1570601007
• MyVariant Identifiers: chr1:g.43408909A>C (hg19) ; chr1:g.42943238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943238A>C , CM000663.2:g.42943238A>C	GRCh38
NC_000001.10:g.43408909A>C , CM000663.1:g.43408909A>C	GRCh37
NC_000001.9:g.43181496A>C	NCBI36
NG_008232.1:g.20939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.102T>G MANE Select	ENSP00000416293.2:p.Asn34Lys
ENST00000674765.1:c.102T>G	ENSP00000501811.1:p.Asn34Lys
ENST00000675112.1:n.125T>G
ENST00000372500.4:c.19-12032T>G	ENSP00000361578.4:n.19-12032T>G
ENST00000415851.6:n.319T>G
ENST00000426263.7:c.102T>G	ENSP00000416293.2:p.Asn34Lys
ENST00000475162.3:c.1T>G
ENST00000625233.2:n.310T>G
ENST00000628173.1:n.321T>G
ENST00000630287.2:c.102T>G	ENSP00000486694.1:p.Asn34Lys
ENST00000630821.1:n.319T>G
NM_006516.2:c.102T>G	NP_006507.2:p.Asn34Lys
NM_006516.3:c.102T>G	NP_006507.2:p.Asn34Lys
NM_006516.4:c.102T>G MANE Select	NP_006507.2:p.Asn34Lys