Canonical Allele Identifier: CA318429

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396377C>G (hg19) ; chr1:g.42930706C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930706C>G , CM000663.2:g.42930706C>G	GRCh38
NC_000001.10:g.43396377C>G , CM000663.1:g.43396377C>G	GRCh37
NC_000001.9:g.43168964C>G	NCBI36
NG_008232.1:g.33471G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.436G>C MANE Select	ENSP00000416293.2:p.Glu146Gln
ENST00000674765.1:c.436G>C	ENSP00000501811.1:p.Glu146Gln
ENST00000675112.1:n.459G>C
ENST00000676254.1:n.885G>C
ENST00000372500.4:c.340G>C	ENSP00000361578.4:p.Glu114Gln
ENST00000426263.7:c.436G>C	ENSP00000416293.2:p.Glu146Gln
ENST00000439722.2:c.315G>C	ENSP00000395521.2:n.315G>C
ENST00000475162.3:c.335G>C
ENST00000625233.2:n.644G>C
ENST00000630287.2:c.436G>C	ENSP00000486694.1:p.Glu146Gln
NM_006516.2:c.436G>C	NP_006507.2:p.Glu146Gln
NM_006516.3:c.436G>C	NP_006507.2:p.Glu146Gln
NM_006516.4:c.436G>C MANE Select	NP_006507.2:p.Glu146Gln