Canonical Allele Identifier: CA417543897

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396449G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930778G>A , CM000663.2:g.42930778G>A	GRCh38
NC_000001.10:g.43396449G>A , CM000663.1:g.43396449G>A	GRCh37
NC_000001.9:g.43169036G>A	NCBI36
NG_008232.1:g.33399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.364C>T MANE Select	ENSP00000416293.2:p.Leu122=
ENST00000674765.1:c.364C>T	ENSP00000501811.1:p.Leu122=
ENST00000675112.1:n.387C>T
ENST00000676254.1:n.813C>T
ENST00000372500.4:c.268C>T	ENSP00000361578.4:p.Leu90=
ENST00000426263.7:c.364C>T	ENSP00000416293.2:p.Leu122=
ENST00000439722.2:c.243C>T	ENSP00000395521.2:n.243C>T
ENST00000475162.3:c.263C>T
ENST00000625233.2:n.572C>T
ENST00000630287.2:c.364C>T	ENSP00000486694.1:p.Leu122=
NM_006516.2:c.364C>T	NP_006507.2:p.Leu122=
NM_006516.3:c.364C>T	NP_006507.2:p.Leu122=
NM_006516.4:c.364C>T MANE Select	NP_006507.2:p.Leu122=