Canonical Allele Identifier: CA339956590

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929249-A-C
• MyVariant Identifiers: chr1:g.43394920A>C (hg19) ; chr1:g.42929249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929249A>C , CM000663.2:g.42929249A>C	GRCh38
NC_000001.10:g.43394920A>C , CM000663.1:g.43394920A>C	GRCh37
NC_000001.9:g.43167507A>C	NCBI36
NG_008232.1:g.34928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.933T>G MANE Select	ENSP00000416293.2:p.Ile311Met
ENST00000674545.1:n.251T>G
ENST00000674765.1:c.933T>G	ENSP00000501811.1:p.Ile311Met
ENST00000675112.1:n.1234T>G
ENST00000676254.1:n.1382T>G
ENST00000426263.7:c.933T>G	ENSP00000416293.2:p.Ile311Met
ENST00000439722.2:c.812T>G	ENSP00000395521.2:n.812T>G
ENST00000475162.3:c.415+1377T>G
ENST00000630287.2:c.*248T>G	ENSP00000486694.1:n.*248T>G
NM_006516.2:c.933T>G	NP_006507.2:p.Ile311Met
NM_006516.3:c.933T>G	NP_006507.2:p.Ile311Met
NM_006516.4:c.933T>G MANE Select	NP_006507.2:p.Ile311Met