Canonical Allele Identifier: CA339958332

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2756128
• ClinVar RCV Id: RCV003517010
• MyVariant Identifiers: chr1:g.43395448A>G (hg19) ; chr1:g.42929777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929777A>G , CM000663.2:g.42929777A>G	GRCh38
NC_000001.10:g.43395448A>G , CM000663.1:g.43395448A>G	GRCh37
NC_000001.9:g.43168035A>G	NCBI36
NG_008232.1:g.34400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.683T>C MANE Select	ENSP00000416293.2:p.Leu228Pro
ENST00000669445.1:c.57-44T>C
ENST00000674765.1:c.683T>C	ENSP00000501811.1:p.Leu228Pro
ENST00000675112.1:n.706T>C
ENST00000676254.1:n.1132T>C
ENST00000426263.7:c.683T>C	ENSP00000416293.2:p.Leu228Pro
ENST00000439722.2:c.562T>C	ENSP00000395521.2:n.562T>C
ENST00000475162.3:c.415+849T>C
ENST00000630287.2:c.520T>C	ENSP00000486694.1:p.Ter174Gln
NM_006516.2:c.683T>C	NP_006507.2:p.Leu228Pro
NM_006516.3:c.683T>C	NP_006507.2:p.Leu228Pro
NM_006516.4:c.683T>C MANE Select	NP_006507.2:p.Leu228Pro