Canonical Allele Identifier: CA339960651

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1314217
• ClinVar RCV Id: RCV001771448 ; RCV002300581 ; RCV003446908 ; RCV003446910 ; RCV003446906 ; RCV003446907 ; RCV003446909
• dbSNP Id: rs760130033
• MyVariant Identifiers: chr1:g.43396374C>T (hg19) ; chr1:g.42930703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930703C>T , CM000663.2:g.42930703C>T	GRCh38
NC_000001.10:g.43396374C>T , CM000663.1:g.43396374C>T	GRCh37
NC_000001.9:g.43168961C>T	NCBI36
NG_008232.1:g.33474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.439G>A MANE Select	ENSP00000416293.2:p.Val147Met
ENST00000674765.1:c.439G>A	ENSP00000501811.1:p.Val147Met
ENST00000675112.1:n.462G>A
ENST00000676254.1:n.888G>A
ENST00000372500.4:c.343G>A	ENSP00000361578.4:p.Val115Met
ENST00000426263.7:c.439G>A	ENSP00000416293.2:p.Val147Met
ENST00000439722.2:c.318G>A	ENSP00000395521.2:n.318G>A
ENST00000475162.3:c.338G>A
ENST00000625233.2:n.647G>A
ENST00000630287.2:c.439G>A	ENSP00000486694.1:p.Val147Met
NM_006516.2:c.439G>A	NP_006507.2:p.Val147Met
NM_006516.3:c.439G>A	NP_006507.2:p.Val147Met
NM_006516.4:c.439G>A MANE Select	NP_006507.2:p.Val147Met