Canonical Allele Identifier: CA339958016

Gene: SLC2A1

Linked Data

• COSMIC: COSM3790029 ; COSM3790030
• MyVariant Identifiers: chr1:g.43395392C>T (hg19) ; chr1:g.42929721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929721C>T , CM000663.2:g.42929721C>T	GRCh38
NC_000001.10:g.43395392C>T , CM000663.1:g.43395392C>T	GRCh37
NC_000001.9:g.43167979C>T	NCBI36
NG_008232.1:g.34456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.739G>A MANE Select	ENSP00000416293.2:p.Glu247Lys
ENST00000669445.1:c.69G>A
ENST00000674765.1:c.739G>A	ENSP00000501811.1:p.Glu247Lys
ENST00000675112.1:n.762G>A
ENST00000676254.1:n.1188G>A
ENST00000426263.7:c.739G>A	ENSP00000416293.2:p.Glu247Lys
ENST00000439722.2:c.618G>A	ENSP00000395521.2:n.618G>A
ENST00000475162.3:c.415+905G>A
ENST00000630287.2:c.*54G>A	ENSP00000486694.1:n.*54G>A
NM_006516.2:c.739G>A	NP_006507.2:p.Glu247Lys
NM_006516.3:c.739G>A	NP_006507.2:p.Glu247Lys
NM_006516.4:c.739G>A MANE Select	NP_006507.2:p.Glu247Lys