Canonical Allele Identifier: CA339960225

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2575732
• ClinVar RCV Id: RCV003321298
• MyVariant Identifiers: chr1:g.43396307A>G (hg19) ; chr1:g.42930636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930636A>G , CM000663.2:g.42930636A>G	GRCh38
NC_000001.10:g.43396307A>G , CM000663.1:g.43396307A>G	GRCh37
NC_000001.9:g.43168894A>G	NCBI36
NG_008232.1:g.33541T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.506T>C MANE Select	ENSP00000416293.2:p.Leu169Pro
ENST00000674765.1:c.506T>C	ENSP00000501811.1:p.Leu169Pro
ENST00000675112.1:n.529T>C
ENST00000676254.1:n.955T>C
ENST00000426263.7:c.506T>C	ENSP00000416293.2:p.Leu169Pro
ENST00000439722.2:c.385T>C	ENSP00000395521.2:n.385T>C
ENST00000475162.3:c.405T>C
ENST00000625233.2:n.714T>C
ENST00000630287.2:c.506T>C	ENSP00000486694.1:p.Leu169Pro
NM_006516.2:c.506T>C	NP_006507.2:p.Leu169Pro
NM_006516.3:c.506T>C	NP_006507.2:p.Leu169Pro
NM_006516.4:c.506T>C MANE Select	NP_006507.2:p.Leu169Pro