Canonical Allele Identifier: CA339953642

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2499475
• ClinVar RCV Id: RCV003221773
• MyVariant Identifiers: chr1:g.43393294C>A (hg19) ; chr1:g.42927623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927623C>A , CM000663.2:g.42927623C>A	GRCh38
NC_000001.10:g.43393294C>A , CM000663.1:g.43393294C>A	GRCh37
NC_000001.9:g.43165881C>A	NCBI36
NG_008232.1:g.36554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1260G>T MANE Select	ENSP00000416293.2:p.Met420Ile
ENST00000674545.1:n.1877G>T
ENST00000674765.1:c.1030-766G>T	ENSP00000501811.1:n.1030-766G>T
ENST00000675112.1:n.1561G>T
ENST00000676254.1:n.1709G>T
ENST00000426263.7:c.1260G>T	ENSP00000416293.2:p.Met420Ile
ENST00000475162.3:c.416-645G>T
ENST00000630287.2:c.*575G>T	ENSP00000486694.1:n.*575G>T
NM_006516.2:c.1260G>T	NP_006507.2:p.Met420Ile
NM_006516.3:c.1260G>T	NP_006507.2:p.Met420Ile
NM_006516.4:c.1260G>T MANE Select	NP_006507.2:p.Met420Ile