Canonical Allele Identifier: CA339960726

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1338228
• ClinVar RCV Id: RCV001822826 ; RCV003992563
• dbSNP Id: rs2124450183
• MyVariant Identifiers: chr1:g.43396387C>A (hg19) ; chr1:g.42930716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930716C>A , CM000663.2:g.42930716C>A	GRCh38
NC_000001.10:g.43396387C>A , CM000663.1:g.43396387C>A	GRCh37
NC_000001.9:g.43168974C>A	NCBI36
NG_008232.1:g.33461G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.426G>T MANE Select	ENSP00000416293.2:p.Met142Ile
ENST00000674765.1:c.426G>T	ENSP00000501811.1:p.Met142Ile
ENST00000675112.1:n.449G>T
ENST00000676254.1:n.875G>T
ENST00000372500.4:c.330G>T	ENSP00000361578.4:p.Met110Ile
ENST00000426263.7:c.426G>T	ENSP00000416293.2:p.Met142Ile
ENST00000439722.2:c.305G>T	ENSP00000395521.2:n.305G>T
ENST00000475162.3:c.325G>T
ENST00000625233.2:n.634G>T
ENST00000630287.2:c.426G>T	ENSP00000486694.1:p.Met142Ile
NM_006516.2:c.426G>T	NP_006507.2:p.Met142Ile
NM_006516.3:c.426G>T	NP_006507.2:p.Met142Ile
NM_006516.4:c.426G>T MANE Select	NP_006507.2:p.Met142Ile