Canonical Allele Identifier: CA339960683

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1496065
• ClinVar RCV Id: RCV001991701
• dbSNP Id: rs2124450167
• MyVariant Identifiers: chr1:g.43396380C>A (hg19) ; chr1:g.42930709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930709C>A , CM000663.2:g.42930709C>A	GRCh38
NC_000001.10:g.43396380C>A , CM000663.1:g.43396380C>A	GRCh37
NC_000001.9:g.43168967C>A	NCBI36
NG_008232.1:g.33468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.433G>T MANE Select	ENSP00000416293.2:p.Gly145Cys
ENST00000674765.1:c.433G>T	ENSP00000501811.1:p.Gly145Cys
ENST00000675112.1:n.456G>T
ENST00000676254.1:n.882G>T
ENST00000372500.4:c.337G>T	ENSP00000361578.4:p.Gly113Cys
ENST00000426263.7:c.433G>T	ENSP00000416293.2:p.Gly145Cys
ENST00000439722.2:c.312G>T	ENSP00000395521.2:n.312G>T
ENST00000475162.3:c.332G>T
ENST00000625233.2:n.641G>T
ENST00000630287.2:c.433G>T	ENSP00000486694.1:p.Gly145Cys
NM_006516.2:c.433G>T	NP_006507.2:p.Gly145Cys
NM_006516.3:c.433G>T	NP_006507.2:p.Gly145Cys
NM_006516.4:c.433G>T MANE Select	NP_006507.2:p.Gly145Cys