Canonical Allele Identifier: CA019308

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 159929
• ClinVar RCV Id: RCV000147532 ; RCV000805096 ; RCV001096519 ; RCV001096518 ; RCV001704070 ; RCV002390306
• dbSNP Id: rs5811
• ExAC: 1:43395367 T / G
• gnomAD v2: 1-43395367-T-G
• gnomAD v3: 1-42929696-T-G
• gnomAD v4: 1-42929696-T-G
• MyVariant Identifiers: chr1:g.43395367T>G (hg19) ; chr1:g.42929696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929696T>G , CM000663.2:g.42929696T>G	GRCh38
NC_000001.10:g.43395367T>G , CM000663.1:g.43395367T>G	GRCh37
NC_000001.9:g.43167954T>G	NCBI36
NG_008232.1:g.34481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.764A>C MANE Select	ENSP00000416293.2:p.Lys255Thr
ENST00000669445.1:c.94A>C
ENST00000674765.1:c.764A>C	ENSP00000501811.1:p.Lys255Thr
ENST00000675112.1:n.787A>C
ENST00000676254.1:n.1213A>C
ENST00000426263.7:c.764A>C	ENSP00000416293.2:p.Lys255Thr
ENST00000439722.2:c.643A>C	ENSP00000395521.2:n.643A>C
ENST00000475162.3:c.415+930A>C
ENST00000630287.2:c.*79A>C	ENSP00000486694.1:n.*79A>C
NM_006516.2:c.764A>C	NP_006507.2:p.Lys255Thr
NM_006516.3:c.764A>C	NP_006507.2:p.Lys255Thr
NM_006516.4:c.764A>C MANE Select	NP_006507.2:p.Lys255Thr