Canonical Allele Identifier: CA21252051

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 627587
• ClinVar RCV Id: RCV000770978 ; RCV001869075 ; RCV002305536 ; RCV003446425
• dbSNP Id: rs80359819
• gnomAD v4: 1-42930754-C-T
• MyVariant Identifiers: chr1:g.43396425C>T (hg19) ; chr1:g.42930754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930754C>T , CM000663.2:g.42930754C>T	GRCh38
NC_000001.10:g.43396425C>T , CM000663.1:g.43396425C>T	GRCh37
NC_000001.9:g.43169012C>T	NCBI36
NG_008232.1:g.33423G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.388G>A MANE Select	ENSP00000416293.2:p.Gly130Ser
ENST00000674765.1:c.388G>A	ENSP00000501811.1:p.Gly130Ser
ENST00000675112.1:n.411G>A
ENST00000676254.1:n.837G>A
ENST00000372500.4:c.292G>A	ENSP00000361578.4:p.Gly98Ser
ENST00000426263.7:c.388G>A	ENSP00000416293.2:p.Gly130Ser
ENST00000439722.2:c.267G>A	ENSP00000395521.2:n.267G>A
ENST00000475162.3:c.287G>A
ENST00000625233.2:n.596G>A
ENST00000630287.2:c.388G>A	ENSP00000486694.1:p.Gly130Ser
NM_006516.2:c.388G>A	NP_006507.2:p.Gly130Ser
NM_006516.3:c.388G>A	NP_006507.2:p.Gly130Ser
NM_006516.4:c.388G>A MANE Select	NP_006507.2:p.Gly130Ser