Canonical Allele Identifier: CA417543405

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1616956
• ClinVar RCV Id: RCV002071582
• dbSNP Id: rs1184570993
• gnomAD v4: 1-42929695-C-T
• MyVariant Identifiers: chr1:g.43395366C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929695C>T , CM000663.2:g.42929695C>T	GRCh38
NC_000001.10:g.43395366C>T , CM000663.1:g.43395366C>T	GRCh37
NC_000001.9:g.43167953C>T	NCBI36
NG_008232.1:g.34482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.765G>A MANE Select	ENSP00000416293.2:p.Lys255=
ENST00000669445.1:c.95G>A
ENST00000674765.1:c.765G>A	ENSP00000501811.1:p.Lys255=
ENST00000675112.1:n.788G>A
ENST00000676254.1:n.1214G>A
ENST00000426263.7:c.765G>A	ENSP00000416293.2:p.Lys255=
ENST00000439722.2:c.644G>A	ENSP00000395521.2:n.644G>A
ENST00000475162.3:c.415+931G>A
ENST00000630287.2:c.*80G>A	ENSP00000486694.1:n.*80G>A
NM_006516.2:c.765G>A	NP_006507.2:p.Lys255=
NM_006516.3:c.765G>A	NP_006507.2:p.Lys255=
NM_006516.4:c.765G>A MANE Select	NP_006507.2:p.Lys255=