Canonical Allele Identifier: CA339958342

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395449G>T (hg19) ; chr1:g.42929778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929778G>T , CM000663.2:g.42929778G>T	GRCh38
NC_000001.10:g.43395449G>T , CM000663.1:g.43395449G>T	GRCh37
NC_000001.9:g.43168036G>T	NCBI36
NG_008232.1:g.34399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.682C>A MANE Select	ENSP00000416293.2:p.Leu228Ile
ENST00000669445.1:c.57-45C>A
ENST00000674765.1:c.682C>A	ENSP00000501811.1:p.Leu228Ile
ENST00000675112.1:n.705C>A
ENST00000676254.1:n.1131C>A
ENST00000426263.7:c.682C>A	ENSP00000416293.2:p.Leu228Ile
ENST00000439722.2:c.561C>A	ENSP00000395521.2:n.561C>A
ENST00000475162.3:c.415+848C>A
ENST00000630287.2:c.519C>A	ENSP00000486694.1:p.Cys173Ter
NM_006516.2:c.682C>A	NP_006507.2:p.Leu228Ile
NM_006516.3:c.682C>A	NP_006507.2:p.Leu228Ile
NM_006516.4:c.682C>A MANE Select	NP_006507.2:p.Leu228Ile