Canonical Allele Identifier: CA339954501

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393479C>G (hg19) ; chr1:g.42927808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927808C>G , CM000663.2:g.42927808C>G	GRCh38
NC_000001.10:g.43393479C>G , CM000663.1:g.43393479C>G	GRCh37
NC_000001.9:g.43166066C>G	NCBI36
NG_008232.1:g.36369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075G>C MANE Select	ENSP00000416293.2:p.Glu359Gln
ENST00000674545.1:n.1692G>C
ENST00000674765.1:c.1030-951G>C	ENSP00000501811.1:n.1030-951G>C
ENST00000675112.1:n.1376G>C
ENST00000676254.1:n.1524G>C
ENST00000426263.7:c.1075G>C	ENSP00000416293.2:p.Glu359Gln
ENST00000475162.3:c.416-830G>C
ENST00000630287.2:c.*390G>C	ENSP00000486694.1:n.*390G>C
NM_006516.2:c.1075G>C	NP_006507.2:p.Glu359Gln
NM_006516.3:c.1075G>C	NP_006507.2:p.Glu359Gln
NM_006516.4:c.1075G>C MANE Select	NP_006507.2:p.Glu359Gln