Canonical Allele Identifier: CA339956421

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2704072
• ClinVar RCV Id: RCV003518033
• MyVariant Identifiers: chr1:g.43394901T>G (hg19) ; chr1:g.42929230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929230T>G , CM000663.2:g.42929230T>G	GRCh38
NC_000001.10:g.43394901T>G , CM000663.1:g.43394901T>G	GRCh37
NC_000001.9:g.43167488T>G	NCBI36
NG_008232.1:g.34947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.952A>C MANE Select	ENSP00000416293.2:p.Thr318Pro
ENST00000674545.1:n.270A>C
ENST00000674765.1:c.952A>C	ENSP00000501811.1:p.Thr318Pro
ENST00000675112.1:n.1253A>C
ENST00000676254.1:n.1401A>C
ENST00000426263.7:c.952A>C	ENSP00000416293.2:p.Thr318Pro
ENST00000439722.2:c.831A>C	ENSP00000395521.2:n.831A>C
ENST00000475162.3:c.415+1396A>C
ENST00000630287.2:c.*267A>C	ENSP00000486694.1:n.*267A>C
NM_006516.2:c.952A>C	NP_006507.2:p.Thr318Pro
NM_006516.3:c.952A>C	NP_006507.2:p.Thr318Pro
NM_006516.4:c.952A>C MANE Select	NP_006507.2:p.Thr318Pro