Canonical Allele Identifier: CA339957157

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395271A>G (hg19) ; chr1:g.42929600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929600A>G , CM000663.2:g.42929600A>G	GRCh38
NC_000001.10:g.43395271A>G , CM000663.1:g.43395271A>G	GRCh37
NC_000001.9:g.43167858A>G	NCBI36
NG_008232.1:g.34577T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.860T>C MANE Select	ENSP00000416293.2:p.Ile287Thr
ENST00000674765.1:c.860T>C	ENSP00000501811.1:p.Ile287Thr
ENST00000675112.1:n.883T>C
ENST00000676254.1:n.1309T>C
ENST00000426263.7:c.860T>C	ENSP00000416293.2:p.Ile287Thr
ENST00000439722.2:c.739T>C	ENSP00000395521.2:n.739T>C
ENST00000475162.3:c.415+1026T>C
ENST00000630287.2:c.*175T>C	ENSP00000486694.1:n.*175T>C
NM_006516.2:c.860T>C	NP_006507.2:p.Ile287Thr
NM_006516.3:c.860T>C	NP_006507.2:p.Ile287Thr
NM_006516.4:c.860T>C MANE Select	NP_006507.2:p.Ile287Thr