Canonical Allele Identifier: CA735975280

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1157360681
• MyVariant Identifiers: chr1:g.43402656C>A (hg19) ; chr1:g.42936985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42936985C>A , CM000663.2:g.42936985C>A	GRCh38
NC_000001.10:g.43402656C>A , CM000663.1:g.43402656C>A	GRCh37
NC_000001.9:g.43175243C>A	NCBI36
NG_008232.1:g.27192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.115-5779G>T MANE Select	ENSP00000416293.2:n.115-5779G>T
ENST00000674765.1:c.115-5779G>T	ENSP00000501811.1:n.115-5779G>T
ENST00000675112.1:n.138-5779G>T
ENST00000372500.4:c.19-5779G>T	ENSP00000361578.4:n.19-5779G>T
ENST00000415851.6:n.332-5779G>T
ENST00000426263.7:c.115-5779G>T	ENSP00000416293.2:n.115-5779G>T
ENST00000475162.3:c.14-5779G>T
ENST00000625233.2:n.323-5779G>T
ENST00000628173.1:n.460+2838G>T
ENST00000630287.2:c.115-5779G>T	ENSP00000486694.1:n.115-5779G>T
NM_006516.2:c.115-5779G>T	NP_006507.2:n.115-5779G>T
NM_006516.3:c.115-5779G>T	NP_006507.2:n.115-5779G>T
NM_006516.4:c.115-5779G>T MANE Select	NP_006507.2:n.115-5779G>T