Canonical Allele Identifier: CA019268

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 159926
• ClinVar RCV Id: RCV000147529 ; RCV000274920 ; RCV000614539 ; RCV001449164
• dbSNP Id: rs587784394
• ExAC: 1:43395461 C / A
• gnomAD v2: 1-43395461-C-A
• gnomAD v3: 1-42929790-C-A
• gnomAD v4: 1-42929790-C-A
• MyVariant Identifiers: chr1:g.43395461C>A (hg19) ; chr1:g.42929790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929790C>A , CM000663.2:g.42929790C>A	GRCh38
NC_000001.10:g.43395461C>A , CM000663.1:g.43395461C>A	GRCh37
NC_000001.9:g.43168048C>A	NCBI36
NG_008232.1:g.34387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.680-10G>T MANE Select	ENSP00000416293.2:n.680-10G>T
ENST00000669445.1:c.57-57G>T
ENST00000674765.1:c.680-10G>T	ENSP00000501811.1:n.680-10G>T
ENST00000675112.1:n.703-10G>T
ENST00000676254.1:n.1129-10G>T
ENST00000426263.7:c.680-10G>T	ENSP00000416293.2:n.680-10G>T
ENST00000439722.2:c.559-10G>T	ENSP00000395521.2:n.559-10G>T
ENST00000475162.3:c.415+836G>T
ENST00000630287.2:c.517-10G>T	ENSP00000486694.1:n.517-10G>T
NM_006516.2:c.680-10G>T	NP_006507.2:n.680-10G>T
NM_006516.3:c.680-10G>T	NP_006507.2:n.680-10G>T
NM_006516.4:c.680-10G>T MANE Select	NP_006507.2:n.680-10G>T