Canonical Allele Identifier: CA339954020

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393404C>T (hg19) ; chr1:g.42927733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927733C>T , CM000663.2:g.42927733C>T	GRCh38
NC_000001.10:g.43393404C>T , CM000663.1:g.43393404C>T	GRCh37
NC_000001.9:g.43165991C>T	NCBI36
NG_008232.1:g.36444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1150G>A MANE Select	ENSP00000416293.2:p.Gly384Ser
ENST00000674545.1:n.1767G>A
ENST00000674765.1:c.1030-876G>A	ENSP00000501811.1:n.1030-876G>A
ENST00000675112.1:n.1451G>A
ENST00000676254.1:n.1599G>A
ENST00000426263.7:c.1150G>A	ENSP00000416293.2:p.Gly384Ser
ENST00000475162.3:c.416-755G>A
ENST00000630287.2:c.*465G>A	ENSP00000486694.1:n.*465G>A
NM_006516.2:c.1150G>A	NP_006507.2:p.Gly384Ser
NM_006516.3:c.1150G>A	NP_006507.2:p.Gly384Ser
NM_006516.4:c.1150G>A MANE Select	NP_006507.2:p.Gly384Ser