Canonical Allele Identifier: CA339953622

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 935591
• ClinVar RCV Id: RCV001204221
• dbSNP Id: rs587784392
• MyVariant Identifiers: chr1:g.43393286T>G (hg19) ; chr1:g.42927615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927615T>G , CM000663.2:g.42927615T>G	GRCh38
NC_000001.10:g.43393286T>G , CM000663.1:g.43393286T>G	GRCh37
NC_000001.9:g.43165873T>G	NCBI36
NG_008232.1:g.36562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1268A>C MANE Select	ENSP00000416293.2:p.Gln423Pro
ENST00000674545.1:n.1885A>C
ENST00000674765.1:c.1030-758A>C	ENSP00000501811.1:n.1030-758A>C
ENST00000675112.1:n.1569A>C
ENST00000676254.1:n.1717A>C
ENST00000426263.7:c.1268A>C	ENSP00000416293.2:p.Gln423Pro
ENST00000475162.3:c.416-637A>C
ENST00000630287.2:c.*583A>C	ENSP00000486694.1:n.*583A>C
NM_006516.2:c.1268A>C	NP_006507.2:p.Gln423Pro
NM_006516.3:c.1268A>C	NP_006507.2:p.Gln423Pro
NM_006516.4:c.1268A>C MANE Select	NP_006507.2:p.Gln423Pro