Canonical Allele Identifier: CA10602779

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 280423
• ClinVar RCV Id: RCV000329396 ; RCV003631101
• dbSNP Id: rs886041633
• MyVariant Identifiers: chr1:g.43394916A>G (hg19) ; chr1:g.42929245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929245A>G , CM000663.2:g.42929245A>G	GRCh38
NC_000001.10:g.43394916A>G , CM000663.1:g.43394916A>G	GRCh37
NC_000001.9:g.43167503A>G	NCBI36
NG_008232.1:g.34932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.937T>C MANE Select	ENSP00000416293.2:p.Ser313Pro
ENST00000674545.1:n.255T>C
ENST00000674765.1:c.937T>C	ENSP00000501811.1:p.Ser313Pro
ENST00000675112.1:n.1238T>C
ENST00000676254.1:n.1386T>C
ENST00000426263.7:c.937T>C	ENSP00000416293.2:p.Ser313Pro
ENST00000439722.2:c.816T>C	ENSP00000395521.2:n.816T>C
ENST00000475162.3:c.415+1381T>C
ENST00000630287.2:c.*252T>C	ENSP00000486694.1:n.*252T>C
NM_006516.2:c.937T>C	NP_006507.2:p.Ser313Pro
NM_006516.3:c.937T>C	NP_006507.2:p.Ser313Pro
NM_006516.4:c.937T>C MANE Select	NP_006507.2:p.Ser313Pro