Canonical Allele Identifier: CA803272

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297378
• ClinVar RCV Id: RCV000301352 ; RCV000358447 ; RCV001566798 ; RCV003445886 ; RCV003445888 ; RCV003445887
• dbSNP Id: rs2229683
• ExAC: 1:43392690 C / T
• gnomAD v2: 1-43392690-C-T
• gnomAD v3: 1-42927019-C-T
• gnomAD v4: 1-42927019-C-T
• MyVariant Identifiers: chr1:g.43392690C>T (hg19) ; chr1:g.42927019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927019C>T , CM000663.2:g.42927019C>T	GRCh38
NC_000001.10:g.43392690C>T , CM000663.1:g.43392690C>T	GRCh37
NC_000001.9:g.43165277C>T	NCBI36
NG_008232.1:g.37158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*22G>A MANE Select	ENSP00000416293.2:n.*22G>A
ENST00000674545.1:n.2118G>A
ENST00000674765.1:c.1030-162G>A	ENSP00000501811.1:n.1030-162G>A
ENST00000675112.1:n.1802G>A
ENST00000676254.1:n.1950G>A
ENST00000426263.7:c.*22G>A	ENSP00000416293.2:n.*22G>A
ENST00000475162.3:c.416-41G>A
ENST00000630287.2:c.*816G>A	ENSP00000486694.1:n.*816G>A
NM_006516.2:c.*22G>A	NP_006507.2:n.*22G>A
NM_006516.3:c.*22G>A	NP_006507.2:n.*22G>A
NM_006516.4:c.*22G>A MANE Select	NP_006507.2:n.*22G>A