Canonical Allele Identifier: CA339957438

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2418667
• ClinVar RCV Id: RCV003121416
• MyVariant Identifiers: chr1:g.43395314G>A (hg19) ; chr1:g.42929643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929643G>A , CM000663.2:g.42929643G>A	GRCh38
NC_000001.10:g.43395314G>A , CM000663.1:g.43395314G>A	GRCh37
NC_000001.9:g.43167901G>A	NCBI36
NG_008232.1:g.34534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.817C>T MANE Select	ENSP00000416293.2:p.Leu273Phe
ENST00000669445.1:c.147C>T
ENST00000674765.1:c.817C>T	ENSP00000501811.1:p.Leu273Phe
ENST00000675112.1:n.840C>T
ENST00000676254.1:n.1266C>T
ENST00000426263.7:c.817C>T	ENSP00000416293.2:p.Leu273Phe
ENST00000439722.2:c.696C>T	ENSP00000395521.2:n.696C>T
ENST00000475162.3:c.415+983C>T
ENST00000630287.2:c.*132C>T	ENSP00000486694.1:n.*132C>T
NM_006516.2:c.817C>T	NP_006507.2:p.Leu273Phe
NM_006516.3:c.817C>T	NP_006507.2:p.Leu273Phe
NM_006516.4:c.817C>T MANE Select	NP_006507.2:p.Leu273Phe