Canonical Allele Identifier: CA339954420

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 649755
• ClinVar RCV Id: RCV000804759
• dbSNP Id: rs1570591031
• MyVariant Identifiers: chr1:g.43393466C>T (hg19) ; chr1:g.42927795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927795C>T , CM000663.2:g.42927795C>T	GRCh38
NC_000001.10:g.43393466C>T , CM000663.1:g.43393466C>T	GRCh37
NC_000001.9:g.43166053C>T	NCBI36
NG_008232.1:g.36382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1088G>A MANE Select	ENSP00000416293.2:p.Trp363Ter
ENST00000674545.1:n.1705G>A
ENST00000674765.1:c.1030-938G>A	ENSP00000501811.1:n.1030-938G>A
ENST00000675112.1:n.1389G>A
ENST00000676254.1:n.1537G>A
ENST00000426263.7:c.1088G>A	ENSP00000416293.2:p.Trp363Ter
ENST00000475162.3:c.416-817G>A
ENST00000630287.2:c.*403G>A	ENSP00000486694.1:n.*403G>A
NM_006516.2:c.1088G>A	NP_006507.2:p.Trp363Ter
NM_006516.3:c.1088G>A	NP_006507.2:p.Trp363Ter
NM_006516.4:c.1088G>A MANE Select	NP_006507.2:p.Trp363Ter