Canonical Allele Identifier: CA339953887

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1183662521
• gnomAD v2: 1-43393368-T-C
• gnomAD v4: 1-42927697-T-C
• MyVariant Identifiers: chr1:g.43393368T>C (hg19) ; chr1:g.42927697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927697T>C , CM000663.2:g.42927697T>C	GRCh38
NC_000001.10:g.43393368T>C , CM000663.1:g.43393368T>C	GRCh37
NC_000001.9:g.43165955T>C	NCBI36
NG_008232.1:g.36480A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1186A>G MANE Select	ENSP00000416293.2:p.Ser396Gly
ENST00000674545.1:n.1803A>G
ENST00000674765.1:c.1030-840A>G	ENSP00000501811.1:n.1030-840A>G
ENST00000675112.1:n.1487A>G
ENST00000676254.1:n.1635A>G
ENST00000426263.7:c.1186A>G	ENSP00000416293.2:p.Ser396Gly
ENST00000475162.3:c.416-719A>G
ENST00000630287.2:c.*501A>G	ENSP00000486694.1:n.*501A>G
NM_006516.2:c.1186A>G	NP_006507.2:p.Ser396Gly
NM_006516.3:c.1186A>G	NP_006507.2:p.Ser396Gly
NM_006516.4:c.1186A>G MANE Select	NP_006507.2:p.Ser396Gly