Canonical Allele Identifier: CA417543488

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1166523269
• COSMIC: COSM4850507 ; COSM4850508
• MyVariant Identifiers: chr1:g.43395647G>A (hg19) ; chr1:g.42929976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929976G>A , CM000663.2:g.42929976G>A	GRCh38
NC_000001.10:g.43395647G>A , CM000663.1:g.43395647G>A	GRCh37
NC_000001.9:g.43168234G>A	NCBI36
NG_008232.1:g.34201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.576C>T MANE Select	ENSP00000416293.2:p.Ile192=
ENST00000674765.1:c.576C>T	ENSP00000501811.1:p.Ile192=
ENST00000675112.1:n.599C>T
ENST00000676254.1:n.1025C>T
ENST00000426263.7:c.576C>T	ENSP00000416293.2:p.Ile192=
ENST00000439722.2:c.455C>T	ENSP00000395521.2:n.455C>T
ENST00000475162.3:c.415+650C>T
ENST00000630287.2:c.517-196C>T	ENSP00000486694.1:n.517-196C>T
NM_006516.2:c.576C>T	NP_006507.2:p.Ile192=
NM_006516.3:c.576C>T	NP_006507.2:p.Ile192=
NM_006516.4:c.576C>T MANE Select	NP_006507.2:p.Ile192=