Canonical Allele Identifier: CA21250639

Gene: SLC2A1

Linked Data

• dbSNP Id: rs749844687
• gnomAD v4: 1-42929250-A-G
• MyVariant Identifiers: chr1:g.43394921A>G (hg19) ; chr1:g.42929250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929250A>G , CM000663.2:g.42929250A>G	GRCh38
NC_000001.10:g.43394921A>G , CM000663.1:g.43394921A>G	GRCh37
NC_000001.9:g.43167508A>G	NCBI36
NG_008232.1:g.34927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.932T>C MANE Select	ENSP00000416293.2:p.Ile311Thr
ENST00000674545.1:n.250T>C
ENST00000674765.1:c.932T>C	ENSP00000501811.1:p.Ile311Thr
ENST00000675112.1:n.1233T>C
ENST00000676254.1:n.1381T>C
ENST00000426263.7:c.932T>C	ENSP00000416293.2:p.Ile311Thr
ENST00000439722.2:c.811T>C	ENSP00000395521.2:n.811T>C
ENST00000475162.3:c.415+1376T>C
ENST00000630287.2:c.*247T>C	ENSP00000486694.1:n.*247T>C
NM_006516.2:c.932T>C	NP_006507.2:p.Ile311Thr
NM_006516.3:c.932T>C	NP_006507.2:p.Ile311Thr
NM_006516.4:c.932T>C MANE Select	NP_006507.2:p.Ile311Thr