Canonical Allele Identifier: CA318455

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928957A>G , CM000663.2:g.42928957A>G	GRCh38
NC_000001.10:g.43394628A>G , CM000663.1:g.43394628A>G	GRCh37
NC_000001.9:g.43167215A>G	NCBI36
NG_008232.1:g.35220T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1049T>C MANE Select	NP_006507.2:p.Leu350Pro
ENST00000426263.10:c.1049T>C MANE Select	ENSP00000416293.2:p.Leu350Pro
NM_006516.2:c.1049T>C	NP_006507.2:p.Leu350Pro
NM_006516.3:c.1049T>C	NP_006507.2:p.Leu350Pro
ENST00000426263.7:c.1049T>C	ENSP00000416293.2:p.Leu350Pro
ENST00000475162.3:c.415+1669T>C
ENST00000630287.2:c.*364T>C	ENSP00000486694.1:n.*364T>C
ENST00000674545.1:n.543T>C
ENST00000674765.1:c.1029+20T>C	ENSP00000501811.1:n.1029+20T>C
ENST00000675112.1:n.1350T>C
ENST00000676254.1:n.1498T>C