Canonical Allele Identifier: CA339953699

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2506783
• ClinVar RCV Id: RCV003237152
• MyVariant Identifiers: chr1:g.43393319C>T (hg19) ; chr1:g.42927648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927648C>T , CM000663.2:g.42927648C>T	GRCh38
NC_000001.10:g.43393319C>T , CM000663.1:g.43393319C>T	GRCh37
NC_000001.9:g.43165906C>T	NCBI36
NG_008232.1:g.36529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1235G>A MANE Select	ENSP00000416293.2:p.Trp412Ter
ENST00000674545.1:n.1852G>A
ENST00000674765.1:c.1030-791G>A	ENSP00000501811.1:n.1030-791G>A
ENST00000675112.1:n.1536G>A
ENST00000676254.1:n.1684G>A
ENST00000426263.7:c.1235G>A	ENSP00000416293.2:p.Trp412Ter
ENST00000475162.3:c.416-670G>A
ENST00000630287.2:c.*550G>A	ENSP00000486694.1:n.*550G>A
NM_006516.2:c.1235G>A	NP_006507.2:p.Trp412Ter
NM_006516.3:c.1235G>A	NP_006507.2:p.Trp412Ter
NM_006516.4:c.1235G>A MANE Select	NP_006507.2:p.Trp412Ter