Canonical Allele Identifier: CA339960190

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930633-A-G
• MyVariant Identifiers: chr1:g.43396304A>G (hg19) ; chr1:g.42930633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930633A>G , CM000663.2:g.42930633A>G	GRCh38
NC_000001.10:g.43396304A>G , CM000663.1:g.43396304A>G	GRCh37
NC_000001.9:g.43168891A>G	NCBI36
NG_008232.1:g.33544T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.509T>C MANE Select	ENSP00000416293.2:p.Ile170Thr
ENST00000674765.1:c.509T>C	ENSP00000501811.1:p.Ile170Thr
ENST00000675112.1:n.532T>C
ENST00000676254.1:n.958T>C
ENST00000426263.7:c.509T>C	ENSP00000416293.2:p.Ile170Thr
ENST00000439722.2:c.388T>C	ENSP00000395521.2:n.388T>C
ENST00000475162.3:c.408T>C
ENST00000625233.2:n.717T>C
ENST00000630287.2:c.509T>C	ENSP00000486694.1:p.Ile170Thr
NM_006516.2:c.509T>C	NP_006507.2:p.Ile170Thr
NM_006516.3:c.509T>C	NP_006507.2:p.Ile170Thr
NM_006516.4:c.509T>C MANE Select	NP_006507.2:p.Ile170Thr