Canonical Allele Identifier: CA21252484

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 436751
• ClinVar RCV Id: RCV000503849 ; RCV000866190 ; RCV001310846 ; RCV002413380 ; RCV003446095 ; RCV003446097 ; RCV003446098 ; RCV003446094 ; RCV003446096
• dbSNP Id: rs780638574
• gnomAD v2: 1-43396812-C-T
• gnomAD v3: 1-42931141-C-T
• gnomAD v4: 1-42931141-C-T
• COSMIC: COSM2170193 ; COSM2170194 ; COSM4238332
• MyVariant Identifiers: chr1:g.43396812C>T (hg19) ; chr1:g.42931141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42931141C>T , CM000663.2:g.42931141C>T	GRCh38
NC_000001.10:g.43396812C>T , CM000663.1:g.43396812C>T	GRCh37
NC_000001.9:g.43169399C>T	NCBI36
NG_008232.1:g.33036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.180G>A MANE Select	ENSP00000416293.2:p.Thr60=
ENST00000674765.1:c.180G>A	ENSP00000501811.1:p.Thr60=
ENST00000675112.1:n.203G>A
ENST00000676254.1:n.629G>A
ENST00000372500.4:c.84G>A	ENSP00000361578.4:p.Thr28=
ENST00000415851.6:n.397G>A
ENST00000426263.7:c.180G>A	ENSP00000416293.2:p.Thr60=
ENST00000475162.3:c.79G>A
ENST00000625233.2:n.388G>A
ENST00000630287.2:c.180G>A	ENSP00000486694.1:p.Thr60=
NM_006516.2:c.180G>A	NP_006507.2:p.Thr60=
NM_006516.3:c.180G>A	NP_006507.2:p.Thr60=
NM_006516.4:c.180G>A MANE Select	NP_006507.2:p.Thr60=