Canonical Allele Identifier: CA339956114

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1442999
• ClinVar RCV Id: RCV001953263
• dbSNP Id: rs796053255
• MyVariant Identifiers: chr1:g.43394695C>G (hg19) ; chr1:g.42929024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929024C>G , CM000663.2:g.42929024C>G	GRCh38
NC_000001.10:g.43394695C>G , CM000663.1:g.43394695C>G	GRCh37
NC_000001.9:g.43167282C>G	NCBI36
NG_008232.1:g.35153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.982G>C MANE Select	ENSP00000416293.2:p.Val328Leu
ENST00000674545.1:n.476G>C
ENST00000674765.1:c.982G>C	ENSP00000501811.1:p.Val328Leu
ENST00000675112.1:n.1283G>C
ENST00000676254.1:n.1431G>C
ENST00000426263.7:c.982G>C	ENSP00000416293.2:p.Val328Leu
ENST00000439722.2:c.861G>C	ENSP00000395521.2:n.861G>C
ENST00000475162.3:c.415+1602G>C
ENST00000630287.2:c.*297G>C	ENSP00000486694.1:n.*297G>C
NM_006516.2:c.982G>C	NP_006507.2:p.Val328Leu
NM_006516.3:c.982G>C	NP_006507.2:p.Val328Leu
NM_006516.4:c.982G>C MANE Select	NP_006507.2:p.Val328Leu