Canonical Allele Identifier: CA339957924

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1375401
• ClinVar RCV Id: RCV001879650 ; RCV002269373 ; RCV003446936 ; RCV003446937 ; RCV003446938 ; RCV003446939 ; RCV003446940
• dbSNP Id: rs1451575059
• gnomAD v4: 1-42929703-G-A
• MyVariant Identifiers: chr1:g.43395374G>A (hg19) ; chr1:g.42929703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929703G>A , CM000663.2:g.42929703G>A	GRCh38
NC_000001.10:g.43395374G>A , CM000663.1:g.43395374G>A	GRCh37
NC_000001.9:g.43167961G>A	NCBI36
NG_008232.1:g.34474C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.757C>T MANE Select	ENSP00000416293.2:p.Arg253Trp
ENST00000669445.1:c.87C>T
ENST00000674765.1:c.757C>T	ENSP00000501811.1:p.Arg253Trp
ENST00000675112.1:n.780C>T
ENST00000676254.1:n.1206C>T
ENST00000426263.7:c.757C>T	ENSP00000416293.2:p.Arg253Trp
ENST00000439722.2:c.636C>T	ENSP00000395521.2:n.636C>T
ENST00000475162.3:c.415+923C>T
ENST00000630287.2:c.*72C>T	ENSP00000486694.1:n.*72C>T
NM_006516.2:c.757C>T	NP_006507.2:p.Arg253Trp
NM_006516.3:c.757C>T	NP_006507.2:p.Arg253Trp
NM_006516.4:c.757C>T MANE Select	NP_006507.2:p.Arg253Trp