Canonical Allele Identifier: CA803495

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929965G>A , CM000663.2:g.42929965G>A	GRCh38
NC_000001.10:g.43395636G>A , CM000663.1:g.43395636G>A	GRCh37
NC_000001.9:g.43168223G>A	NCBI36
NG_008232.1:g.34212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.587C>T MANE Select	NP_006507.2:p.Pro196Leu
ENST00000426263.10:c.587C>T MANE Select	ENSP00000416293.2:p.Pro196Leu
NM_006516.2:c.587C>T	NP_006507.2:p.Pro196Leu
NM_006516.3:c.587C>T	NP_006507.2:p.Pro196Leu
ENST00000426263.7:c.587C>T	ENSP00000416293.2:p.Pro196Leu
ENST00000439722.2:c.466C>T	ENSP00000395521.2:n.466C>T
ENST00000475162.3:c.415+661C>T
ENST00000630287.2:c.517-185C>T	ENSP00000486694.1:n.517-185C>T
ENST00000674765.1:c.587C>T	ENSP00000501811.1:p.Pro196Leu
ENST00000675112.1:n.610C>T
ENST00000676254.1:n.1036C>T