Canonical Allele Identifier: CA339960546

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 453131
• ClinVar RCV Id: RCV000520301 ; RCV002265788
• dbSNP Id: rs794727642
• MyVariant Identifiers: chr1:g.43396355C>G (hg19) ; chr1:g.42930684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930684C>G , CM000663.2:g.42930684C>G	GRCh38
NC_000001.10:g.43396355C>G , CM000663.1:g.43396355C>G	GRCh37
NC_000001.9:g.43168942C>G	NCBI36
NG_008232.1:g.33493G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.458G>C MANE Select	ENSP00000416293.2:p.Arg153Pro
ENST00000674765.1:c.458G>C	ENSP00000501811.1:p.Arg153Pro
ENST00000675112.1:n.481G>C
ENST00000676254.1:n.907G>C
ENST00000426263.7:c.458G>C	ENSP00000416293.2:p.Arg153Pro
ENST00000439722.2:c.337G>C	ENSP00000395521.2:n.337G>C
ENST00000475162.3:c.357G>C
ENST00000625233.2:n.666G>C
ENST00000630287.2:c.458G>C	ENSP00000486694.1:p.Arg153Pro
NM_006516.2:c.458G>C	NP_006507.2:p.Arg153Pro
NM_006516.3:c.458G>C	NP_006507.2:p.Arg153Pro
NM_006516.4:c.458G>C MANE Select	NP_006507.2:p.Arg153Pro