Canonical Allele Identifier: CA339957830

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643466456
• MyVariant Identifiers: chr1:g.43395356T>G (hg19) ; chr1:g.42929685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929685T>G , CM000663.2:g.42929685T>G	GRCh38
NC_000001.10:g.43395356T>G , CM000663.1:g.43395356T>G	GRCh37
NC_000001.9:g.43167943T>G	NCBI36
NG_008232.1:g.34492A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.775A>C MANE Select	ENSP00000416293.2:p.Ile259Leu
ENST00000669445.1:c.105A>C
ENST00000674765.1:c.775A>C	ENSP00000501811.1:p.Ile259Leu
ENST00000675112.1:n.798A>C
ENST00000676254.1:n.1224A>C
ENST00000426263.7:c.775A>C	ENSP00000416293.2:p.Ile259Leu
ENST00000439722.2:c.654A>C	ENSP00000395521.2:n.654A>C
ENST00000475162.3:c.415+941A>C
ENST00000630287.2:c.*90A>C	ENSP00000486694.1:n.*90A>C
NM_006516.2:c.775A>C	NP_006507.2:p.Ile259Leu
NM_006516.3:c.775A>C	NP_006507.2:p.Ile259Leu
NM_006516.4:c.775A>C MANE Select	NP_006507.2:p.Ile259Leu