Canonical Allele Identifier: CA417409133

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394950C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929279C>G , CM000663.2:g.42929279C>G	GRCh38
NC_000001.10:g.43394950C>G , CM000663.1:g.43394950C>G	GRCh37
NC_000001.9:g.43167537C>G	NCBI36
NG_008232.1:g.34898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.903G>C MANE Select	ENSP00000416293.2:p.Ala301=
ENST00000674545.1:n.221G>C
ENST00000674765.1:c.903G>C	ENSP00000501811.1:p.Ala301=
ENST00000675112.1:n.1204G>C
ENST00000676254.1:n.1352G>C
ENST00000426263.7:c.903G>C	ENSP00000416293.2:p.Ala301=
ENST00000439722.2:c.782G>C	ENSP00000395521.2:n.782G>C
ENST00000475162.3:c.415+1347G>C
ENST00000630287.2:c.*218G>C	ENSP00000486694.1:n.*218G>C
NM_006516.2:c.903G>C	NP_006507.2:p.Ala301=
NM_006516.3:c.903G>C	NP_006507.2:p.Ala301=
NM_006516.4:c.903G>C MANE Select	NP_006507.2:p.Ala301=