Canonical Allele Identifier: CA417543460

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395440G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929769G>A , CM000663.2:g.42929769G>A	GRCh38
NC_000001.10:g.43395440G>A , CM000663.1:g.43395440G>A	GRCh37
NC_000001.9:g.43168027G>A	NCBI36
NG_008232.1:g.34408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.691C>T MANE Select	ENSP00000416293.2:p.Leu231=
ENST00000669445.1:c.57-36C>T
ENST00000674765.1:c.691C>T	ENSP00000501811.1:p.Leu231=
ENST00000675112.1:n.714C>T
ENST00000676254.1:n.1140C>T
ENST00000426263.7:c.691C>T	ENSP00000416293.2:p.Leu231=
ENST00000439722.2:c.570C>T	ENSP00000395521.2:n.570C>T
ENST00000475162.3:c.415+857C>T
ENST00000630287.2:c.*6C>T	ENSP00000486694.1:n.*6C>T
NM_006516.2:c.691C>T	NP_006507.2:p.Leu231=
NM_006516.3:c.691C>T	NP_006507.2:p.Leu231=
NM_006516.4:c.691C>T MANE Select	NP_006507.2:p.Leu231=