Canonical Allele Identifier: CA417409348

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 587759
• ClinVar RCV Id: RCV002312261 ; RCV003517259 ; RCV004547889
• dbSNP Id: rs1370873840
• gnomAD v2: 1-43395327-G-A
• gnomAD v3: 1-42929656-G-A
• gnomAD v4: 1-42929656-G-A
• MyVariant Identifiers: chr1:g.43395327G>A (hg19) ; chr1:g.42929656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929656G>A , CM000663.2:g.42929656G>A	GRCh38
NC_000001.10:g.43395327G>A , CM000663.1:g.43395327G>A	GRCh37
NC_000001.9:g.43167914G>A	NCBI36
NG_008232.1:g.34521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.804C>T MANE Select	ENSP00000416293.2:p.Tyr268=
ENST00000669445.1:c.134C>T
ENST00000674765.1:c.804C>T	ENSP00000501811.1:p.Tyr268=
ENST00000675112.1:n.827C>T
ENST00000676254.1:n.1253C>T
ENST00000426263.7:c.804C>T	ENSP00000416293.2:p.Tyr268=
ENST00000439722.2:c.683C>T	ENSP00000395521.2:n.683C>T
ENST00000475162.3:c.415+970C>T
ENST00000630287.2:c.*119C>T	ENSP00000486694.1:n.*119C>T
NM_006516.2:c.804C>T	NP_006507.2:p.Tyr268=
NM_006516.3:c.804C>T	NP_006507.2:p.Tyr268=
NM_006516.4:c.804C>T MANE Select	NP_006507.2:p.Tyr268=