Canonical Allele Identifier: CA522805111

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1440318059
• gnomAD v2: 1-43395247-T-G
• gnomAD v4: 1-42929576-T-G
• MyVariant Identifiers: chr1:g.43395247T>G (hg19) ; chr1:g.42929576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929576T>G , CM000663.2:g.42929576T>G	GRCh38
NC_000001.10:g.43395247T>G , CM000663.1:g.43395247T>G	GRCh37
NC_000001.9:g.43167834T>G	NCBI36
NG_008232.1:g.34601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+17A>C MANE Select	ENSP00000416293.2:n.867+17A>C
ENST00000674765.1:c.867+17A>C	ENSP00000501811.1:n.867+17A>C
ENST00000675112.1:n.907A>C
ENST00000676254.1:n.1316+17A>C
ENST00000426263.7:c.867+17A>C	ENSP00000416293.2:n.867+17A>C
ENST00000439722.2:c.746+17A>C	ENSP00000395521.2:n.746+17A>C
ENST00000475162.3:c.415+1050A>C
ENST00000630287.2:c.*182+17A>C	ENSP00000486694.1:n.*182+17A>C
NM_006516.2:c.867+17A>C	NP_006507.2:n.867+17A>C
NM_006516.3:c.867+17A>C	NP_006507.2:n.867+17A>C
NM_006516.4:c.867+17A>C MANE Select	NP_006507.2:n.867+17A>C