Canonical Allele Identifier: CA318457

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207206
• ClinVar RCV Id: RCV000189372
• dbSNP Id: rs796053258
• MyVariant Identifiers: chr1:g.43393449T>C (hg19) ; chr1:g.42927778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927778T>C , CM000663.2:g.42927778T>C	GRCh38
NC_000001.10:g.43393449T>C , CM000663.1:g.43393449T>C	GRCh37
NC_000001.9:g.43166036T>C	NCBI36
NG_008232.1:g.36399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1105A>G MANE Select	ENSP00000416293.2:p.Ile369Val
ENST00000674545.1:n.1722A>G
ENST00000674765.1:c.1030-921A>G	ENSP00000501811.1:n.1030-921A>G
ENST00000675112.1:n.1406A>G
ENST00000676254.1:n.1554A>G
ENST00000426263.7:c.1105A>G	ENSP00000416293.2:p.Ile369Val
ENST00000475162.3:c.416-800A>G
ENST00000630287.2:c.*420A>G	ENSP00000486694.1:n.*420A>G
NM_006516.2:c.1105A>G	NP_006507.2:p.Ile369Val
NM_006516.3:c.1105A>G	NP_006507.2:p.Ile369Val
NM_006516.4:c.1105A>G MANE Select	NP_006507.2:p.Ile369Val