Canonical Allele Identifier: CA339953916

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1384263716
• gnomAD v2: 1-43393380-C-G
• gnomAD v4: 1-42927709-C-G
• MyVariant Identifiers: chr1:g.43393380C>G (hg19) ; chr1:g.42927709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927709C>G , CM000663.2:g.42927709C>G	GRCh38
NC_000001.10:g.43393380C>G , CM000663.1:g.43393380C>G	GRCh37
NC_000001.9:g.43165967C>G	NCBI36
NG_008232.1:g.36468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1174G>C MANE Select	ENSP00000416293.2:p.Ala392Pro
ENST00000674545.1:n.1791G>C
ENST00000674765.1:c.1030-852G>C	ENSP00000501811.1:n.1030-852G>C
ENST00000675112.1:n.1475G>C
ENST00000676254.1:n.1623G>C
ENST00000426263.7:c.1174G>C	ENSP00000416293.2:p.Ala392Pro
ENST00000475162.3:c.416-731G>C
ENST00000630287.2:c.*489G>C	ENSP00000486694.1:n.*489G>C
NM_006516.2:c.1174G>C	NP_006507.2:p.Ala392Pro
NM_006516.3:c.1174G>C	NP_006507.2:p.Ala392Pro
NM_006516.4:c.1174G>C MANE Select	NP_006507.2:p.Ala392Pro