Canonical Allele Identifier: CA339957641

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2683711
• ClinVar RCV Id: RCV003480531 ; RCV003631327
• dbSNP Id: rs1643466133
• MyVariant Identifiers: chr1:g.43395337G>A (hg19) ; chr1:g.42929666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929666G>A , CM000663.2:g.42929666G>A	GRCh38
NC_000001.10:g.43395337G>A , CM000663.1:g.43395337G>A	GRCh37
NC_000001.9:g.43167924G>A	NCBI36
NG_008232.1:g.34511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.794C>T MANE Select	ENSP00000416293.2:p.Ser265Phe
ENST00000669445.1:c.124C>T
ENST00000674765.1:c.794C>T	ENSP00000501811.1:p.Ser265Phe
ENST00000675112.1:n.817C>T
ENST00000676254.1:n.1243C>T
ENST00000426263.7:c.794C>T	ENSP00000416293.2:p.Ser265Phe
ENST00000439722.2:c.673C>T	ENSP00000395521.2:n.673C>T
ENST00000475162.3:c.415+960C>T
ENST00000630287.2:c.*109C>T	ENSP00000486694.1:n.*109C>T
NM_006516.2:c.794C>T	NP_006507.2:p.Ser265Phe
NM_006516.3:c.794C>T	NP_006507.2:p.Ser265Phe
NM_006516.4:c.794C>T MANE Select	NP_006507.2:p.Ser265Phe