Canonical Allele Identifier: CA339956322

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2795084
• ClinVar RCV Id: RCV003631499
• dbSNP Id: rs1349205424
• gnomAD v2: 1-43394889-C-G
• gnomAD v4: 1-42929218-C-G
• MyVariant Identifiers: chr1:g.43394889C>G (hg19) ; chr1:g.42929218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929218C>G , CM000663.2:g.42929218C>G	GRCh38
NC_000001.10:g.43394889C>G , CM000663.1:g.43394889C>G	GRCh37
NC_000001.9:g.43167476C>G	NCBI36
NG_008232.1:g.34959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.964G>C MANE Select	ENSP00000416293.2:p.Val322Leu
ENST00000674545.1:n.282G>C
ENST00000674765.1:c.964G>C	ENSP00000501811.1:p.Val322Leu
ENST00000675112.1:n.1265G>C
ENST00000676254.1:n.1413G>C
ENST00000426263.7:c.964G>C	ENSP00000416293.2:p.Val322Leu
ENST00000439722.2:c.843G>C	ENSP00000395521.2:n.843G>C
ENST00000475162.3:c.415+1408G>C
ENST00000630287.2:c.*279G>C	ENSP00000486694.1:n.*279G>C
NM_006516.2:c.964G>C	NP_006507.2:p.Val322Leu
NM_006516.3:c.964G>C	NP_006507.2:p.Val322Leu
NM_006516.4:c.964G>C MANE Select	NP_006507.2:p.Val322Leu