Canonical Allele Identifier: CA417407049

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393372G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927701G>C , CM000663.2:g.42927701G>C	GRCh38
NC_000001.10:g.43393372G>C , CM000663.1:g.43393372G>C	GRCh37
NC_000001.9:g.43165959G>C	NCBI36
NG_008232.1:g.36476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1182C>G MANE Select	ENSP00000416293.2:p.Leu394=
ENST00000674545.1:n.1799C>G
ENST00000674765.1:c.1030-844C>G	ENSP00000501811.1:n.1030-844C>G
ENST00000675112.1:n.1483C>G
ENST00000676254.1:n.1631C>G
ENST00000426263.7:c.1182C>G	ENSP00000416293.2:p.Leu394=
ENST00000475162.3:c.416-723C>G
ENST00000630287.2:c.*497C>G	ENSP00000486694.1:n.*497C>G
NM_006516.2:c.1182C>G	NP_006507.2:p.Leu394=
NM_006516.3:c.1182C>G	NP_006507.2:p.Leu394=
NM_006516.4:c.1182C>G MANE Select	NP_006507.2:p.Leu394=