Canonical Allele Identifier: CA417543428

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395417G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929746G>C , CM000663.2:g.42929746G>C	GRCh38
NC_000001.10:g.43395417G>C , CM000663.1:g.43395417G>C	GRCh37
NC_000001.9:g.43168004G>C	NCBI36
NG_008232.1:g.34431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.714C>G MANE Select	ENSP00000416293.2:p.Thr238=
ENST00000669445.1:c.57-13C>G
ENST00000674765.1:c.714C>G	ENSP00000501811.1:p.Thr238=
ENST00000675112.1:n.737C>G
ENST00000676254.1:n.1163C>G
ENST00000426263.7:c.714C>G	ENSP00000416293.2:p.Thr238=
ENST00000439722.2:c.593C>G	ENSP00000395521.2:n.593C>G
ENST00000475162.3:c.415+880C>G
ENST00000630287.2:c.*29C>G	ENSP00000486694.1:n.*29C>G
NM_006516.2:c.714C>G	NP_006507.2:p.Thr238=
NM_006516.3:c.714C>G	NP_006507.2:p.Thr238=
NM_006516.4:c.714C>G MANE Select	NP_006507.2:p.Thr238=