Canonical Allele Identifier: CA339964888

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2690007
• ClinVar RCV Id: RCV003491497 ; RCV003517510
• gnomAD v4: 1-42943303-T-G
• MyVariant Identifiers: chr1:g.43408974T>G (hg19) ; chr1:g.42943303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943303T>G , CM000663.2:g.42943303T>G	GRCh38
NC_000001.10:g.43408974T>G , CM000663.1:g.43408974T>G	GRCh37
NC_000001.9:g.43181561T>G	NCBI36
NG_008232.1:g.20874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.37A>C MANE Select	ENSP00000416293.2:p.Met13Leu
ENST00000674765.1:c.37A>C	ENSP00000501811.1:p.Met13Leu
ENST00000675112.1:n.60A>C
ENST00000372500.4:c.19-12097A>C	ENSP00000361578.4:n.19-12097A>C
ENST00000415851.6:n.254A>C
ENST00000426263.7:c.37A>C	ENSP00000416293.2:p.Met13Leu
ENST00000625233.2:n.245A>C
ENST00000628173.1:n.256A>C
ENST00000630287.2:c.37A>C	ENSP00000486694.1:p.Met13Leu
ENST00000630821.1:n.254A>C
NM_006516.2:c.37A>C	NP_006507.2:p.Met13Leu
NM_006516.3:c.37A>C	NP_006507.2:p.Met13Leu
NM_006516.4:c.37A>C MANE Select	NP_006507.2:p.Met13Leu