Canonical Allele Identifier: CA339956937

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2710824
• ClinVar RCV Id: RCV003518178
• MyVariant Identifiers: chr1:g.43394977A>C (hg19) ; chr1:g.42929306A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929306A>C , CM000663.2:g.42929306A>C	GRCh38
NC_000001.10:g.43394977A>C , CM000663.1:g.43394977A>C	GRCh37
NC_000001.9:g.43167564A>C	NCBI36
NG_008232.1:g.34871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.876T>G MANE Select	ENSP00000416293.2:p.Tyr292Ter
ENST00000674545.1:n.194T>G
ENST00000674765.1:c.876T>G	ENSP00000501811.1:p.Tyr292Ter
ENST00000675112.1:n.1177T>G
ENST00000676254.1:n.1325T>G
ENST00000426263.7:c.876T>G	ENSP00000416293.2:p.Tyr292Ter
ENST00000439722.2:c.755T>G	ENSP00000395521.2:n.755T>G
ENST00000475162.3:c.415+1320T>G
ENST00000630287.2:c.*191T>G	ENSP00000486694.1:n.*191T>G
NM_006516.2:c.876T>G	NP_006507.2:p.Tyr292Ter
NM_006516.3:c.876T>G	NP_006507.2:p.Tyr292Ter
NM_006516.4:c.876T>G MANE Select	NP_006507.2:p.Tyr292Ter