Canonical Allele Identifier: CA417543502

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395659C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929988C>A , CM000663.2:g.42929988C>A	GRCh38
NC_000001.10:g.43395659C>A , CM000663.1:g.43395659C>A	GRCh37
NC_000001.9:g.43168246C>A	NCBI36
NG_008232.1:g.34189G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.564G>T MANE Select	ENSP00000416293.2:p.Leu188=
ENST00000674765.1:c.564G>T	ENSP00000501811.1:p.Leu188=
ENST00000675112.1:n.587G>T
ENST00000676254.1:n.1013G>T
ENST00000426263.7:c.564G>T	ENSP00000416293.2:p.Leu188=
ENST00000439722.2:c.443G>T	ENSP00000395521.2:n.443G>T
ENST00000475162.3:c.415+638G>T
ENST00000630287.2:c.517-208G>T	ENSP00000486694.1:n.517-208G>T
NM_006516.2:c.564G>T	NP_006507.2:p.Leu188=
NM_006516.3:c.564G>T	NP_006507.2:p.Leu188=
NM_006516.4:c.564G>T MANE Select	NP_006507.2:p.Leu188=