Canonical Allele Identifier: CA339957820

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395355A>G (hg19) ; chr1:g.42929684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929684A>G , CM000663.2:g.42929684A>G	GRCh38
NC_000001.10:g.43395355A>G , CM000663.1:g.43395355A>G	GRCh37
NC_000001.9:g.43167942A>G	NCBI36
NG_008232.1:g.34493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.776T>C MANE Select	ENSP00000416293.2:p.Ile259Thr
ENST00000669445.1:c.106T>C
ENST00000674765.1:c.776T>C	ENSP00000501811.1:p.Ile259Thr
ENST00000675112.1:n.799T>C
ENST00000676254.1:n.1225T>C
ENST00000426263.7:c.776T>C	ENSP00000416293.2:p.Ile259Thr
ENST00000439722.2:c.655T>C	ENSP00000395521.2:n.655T>C
ENST00000475162.3:c.415+942T>C
ENST00000630287.2:c.*91T>C	ENSP00000486694.1:n.*91T>C
NM_006516.2:c.776T>C	NP_006507.2:p.Ile259Thr
NM_006516.3:c.776T>C	NP_006507.2:p.Ile259Thr
NM_006516.4:c.776T>C MANE Select	NP_006507.2:p.Ile259Thr