Canonical Allele Identifier: CA339956715

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2626864
• ClinVar RCV Id: RCV003387552
• MyVariant Identifiers: chr1:g.43394940G>A (hg19) ; chr1:g.42929269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929269G>A , CM000663.2:g.42929269G>A	GRCh38
NC_000001.10:g.43394940G>A , CM000663.1:g.43394940G>A	GRCh37
NC_000001.9:g.43167527G>A	NCBI36
NG_008232.1:g.34908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.913C>T MANE Select	ENSP00000416293.2:p.Gln305Ter
ENST00000674545.1:n.231C>T
ENST00000674765.1:c.913C>T	ENSP00000501811.1:p.Gln305Ter
ENST00000675112.1:n.1214C>T
ENST00000676254.1:n.1362C>T
ENST00000426263.7:c.913C>T	ENSP00000416293.2:p.Gln305Ter
ENST00000439722.2:c.792C>T	ENSP00000395521.2:n.792C>T
ENST00000475162.3:c.415+1357C>T
ENST00000630287.2:c.*228C>T	ENSP00000486694.1:n.*228C>T
NM_006516.2:c.913C>T	NP_006507.2:p.Gln305Ter
NM_006516.3:c.913C>T	NP_006507.2:p.Gln305Ter
NM_006516.4:c.913C>T MANE Select	NP_006507.2:p.Gln305Ter