Canonical Allele Identifier: CA417407020

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1570590937
• COSMIC: COSM426291
• MyVariant Identifiers: chr1:g.43393369G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927698G>A , CM000663.2:g.42927698G>A	GRCh38
NC_000001.10:g.43393369G>A , CM000663.1:g.43393369G>A	GRCh37
NC_000001.9:g.43165956G>A	NCBI36
NG_008232.1:g.36479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1185C>T MANE Select	ENSP00000416293.2:p.Phe395=
ENST00000674545.1:n.1802C>T
ENST00000674765.1:c.1030-841C>T	ENSP00000501811.1:n.1030-841C>T
ENST00000675112.1:n.1486C>T
ENST00000676254.1:n.1634C>T
ENST00000426263.7:c.1185C>T	ENSP00000416293.2:p.Phe395=
ENST00000475162.3:c.416-720C>T
ENST00000630287.2:c.*500C>T	ENSP00000486694.1:n.*500C>T
NM_006516.2:c.1185C>T	NP_006507.2:p.Phe395=
NM_006516.3:c.1185C>T	NP_006507.2:p.Phe395=
NM_006516.4:c.1185C>T MANE Select	NP_006507.2:p.Phe395=