Canonical Allele Identifier: CA318467

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927726A>C , CM000663.2:g.42927726A>C	GRCh38
NC_000001.10:g.43393397A>C , CM000663.1:g.43393397A>C	GRCh37
NC_000001.9:g.43165984A>C	NCBI36
NG_008232.1:g.36451T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1157T>G MANE Select	NP_006507.2:p.Ile386Ser
ENST00000426263.10:c.1157T>G MANE Select	ENSP00000416293.2:p.Ile386Ser
NM_006516.2:c.1157T>G	NP_006507.2:p.Ile386Ser
NM_006516.3:c.1157T>G	NP_006507.2:p.Ile386Ser
ENST00000426263.7:c.1157T>G	ENSP00000416293.2:p.Ile386Ser
ENST00000475162.3:c.416-748T>G
ENST00000630287.2:c.*472T>G	ENSP00000486694.1:n.*472T>G
ENST00000674545.1:n.1774T>G
ENST00000674765.1:c.1030-869T>G	ENSP00000501811.1:n.1030-869T>G
ENST00000675112.1:n.1458T>G
ENST00000676254.1:n.1606T>G