Canonical Allele Identifier: CA417409171

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1417673057
• MyVariant Identifiers: chr1:g.43394965G>A (hg19) ; chr1:g.42929294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929294G>A , CM000663.2:g.42929294G>A	GRCh38
NC_000001.10:g.43394965G>A , CM000663.1:g.43394965G>A	GRCh37
NC_000001.9:g.43167552G>A	NCBI36
NG_008232.1:g.34883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.888C>T MANE Select	ENSP00000416293.2:p.Ser296=
ENST00000674545.1:n.206C>T
ENST00000674765.1:c.888C>T	ENSP00000501811.1:p.Ser296=
ENST00000675112.1:n.1189C>T
ENST00000676254.1:n.1337C>T
ENST00000426263.7:c.888C>T	ENSP00000416293.2:p.Ser296=
ENST00000439722.2:c.767C>T	ENSP00000395521.2:n.767C>T
ENST00000475162.3:c.415+1332C>T
ENST00000630287.2:c.*203C>T	ENSP00000486694.1:n.*203C>T
NM_006516.2:c.888C>T	NP_006507.2:p.Ser296=
NM_006516.3:c.888C>T	NP_006507.2:p.Ser296=
NM_006516.4:c.888C>T MANE Select	NP_006507.2:p.Ser296=