Canonical Allele Identifier: CA339964766

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43408917C>A (hg19) ; chr1:g.42943246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943246C>A , CM000663.2:g.42943246C>A	GRCh38
NC_000001.10:g.43408917C>A , CM000663.1:g.43408917C>A	GRCh37
NC_000001.9:g.43181504C>A	NCBI36
NG_008232.1:g.20931G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.94G>T MANE Select	ENSP00000416293.2:p.Val32Phe
ENST00000674765.1:c.94G>T	ENSP00000501811.1:p.Val32Phe
ENST00000675112.1:n.117G>T
ENST00000372500.4:c.19-12040G>T	ENSP00000361578.4:n.19-12040G>T
ENST00000415851.6:n.311G>T
ENST00000426263.7:c.94G>T	ENSP00000416293.2:p.Val32Phe
ENST00000625233.2:n.302G>T
ENST00000628173.1:n.313G>T
ENST00000630287.2:c.94G>T	ENSP00000486694.1:p.Val32Phe
ENST00000630821.1:n.311G>T
NM_006516.2:c.94G>T	NP_006507.2:p.Val32Phe
NM_006516.3:c.94G>T	NP_006507.2:p.Val32Phe
NM_006516.4:c.94G>T MANE Select	NP_006507.2:p.Val32Phe