Canonical Allele Identifier: CA417543886

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396443G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930772G>A , CM000663.2:g.42930772G>A	GRCh38
NC_000001.10:g.43396443G>A , CM000663.1:g.43396443G>A	GRCh37
NC_000001.9:g.43169030G>A	NCBI36
NG_008232.1:g.33405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.370C>T MANE Select	ENSP00000416293.2:p.Leu124=
ENST00000674765.1:c.370C>T	ENSP00000501811.1:p.Leu124=
ENST00000675112.1:n.393C>T
ENST00000676254.1:n.819C>T
ENST00000372500.4:c.274C>T	ENSP00000361578.4:p.Leu92=
ENST00000426263.7:c.370C>T	ENSP00000416293.2:p.Leu124=
ENST00000439722.2:c.249C>T	ENSP00000395521.2:n.249C>T
ENST00000475162.3:c.269C>T
ENST00000625233.2:n.578C>T
ENST00000630287.2:c.370C>T	ENSP00000486694.1:p.Leu124=
NM_006516.2:c.370C>T	NP_006507.2:p.Leu124=
NM_006516.3:c.370C>T	NP_006507.2:p.Leu124=
NM_006516.4:c.370C>T MANE Select	NP_006507.2:p.Leu124=