Canonical Allele Identifier: CA339956936

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394976A>T (hg19) ; chr1:g.42929305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929305A>T , CM000663.2:g.42929305A>T	GRCh38
NC_000001.10:g.43394976A>T , CM000663.1:g.43394976A>T	GRCh37
NC_000001.9:g.43167563A>T	NCBI36
NG_008232.1:g.34872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.877T>A MANE Select	ENSP00000416293.2:p.Tyr293Asn
ENST00000674545.1:n.195T>A
ENST00000674765.1:c.877T>A	ENSP00000501811.1:p.Tyr293Asn
ENST00000675112.1:n.1178T>A
ENST00000676254.1:n.1326T>A
ENST00000426263.7:c.877T>A	ENSP00000416293.2:p.Tyr293Asn
ENST00000439722.2:c.756T>A	ENSP00000395521.2:n.756T>A
ENST00000475162.3:c.415+1321T>A
ENST00000630287.2:c.*192T>A	ENSP00000486694.1:n.*192T>A
NM_006516.2:c.877T>A	NP_006507.2:p.Tyr293Asn
NM_006516.3:c.877T>A	NP_006507.2:p.Tyr293Asn
NM_006516.4:c.877T>A MANE Select	NP_006507.2:p.Tyr293Asn