Canonical Allele Identifier: CA339960959

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396432G>T (hg19) ; chr1:g.42930761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930761G>T , CM000663.2:g.42930761G>T	GRCh38
NC_000001.10:g.43396432G>T , CM000663.1:g.43396432G>T	GRCh37
NC_000001.9:g.43169019G>T	NCBI36
NG_008232.1:g.33416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.381C>A MANE Select	ENSP00000416293.2:p.Phe127Leu
ENST00000674765.1:c.381C>A	ENSP00000501811.1:p.Phe127Leu
ENST00000675112.1:n.404C>A
ENST00000676254.1:n.830C>A
ENST00000372500.4:c.285C>A	ENSP00000361578.4:p.Phe95Leu
ENST00000426263.7:c.381C>A	ENSP00000416293.2:p.Phe127Leu
ENST00000439722.2:c.260C>A	ENSP00000395521.2:n.260C>A
ENST00000475162.3:c.280C>A
ENST00000625233.2:n.589C>A
ENST00000630287.2:c.381C>A	ENSP00000486694.1:p.Phe127Leu
NM_006516.2:c.381C>A	NP_006507.2:p.Phe127Leu
NM_006516.3:c.381C>A	NP_006507.2:p.Phe127Leu
NM_006516.4:c.381C>A MANE Select	NP_006507.2:p.Phe127Leu