Canonical Allele Identifier: CA339956916

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394970T>A (hg19) ; chr1:g.42929299T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929299T>A , CM000663.2:g.42929299T>A	GRCh38
NC_000001.10:g.43394970T>A , CM000663.1:g.43394970T>A	GRCh37
NC_000001.9:g.43167557T>A	NCBI36
NG_008232.1:g.34878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.883A>T MANE Select	ENSP00000416293.2:p.Thr295Ser
ENST00000674545.1:n.201A>T
ENST00000674765.1:c.883A>T	ENSP00000501811.1:p.Thr295Ser
ENST00000675112.1:n.1184A>T
ENST00000676254.1:n.1332A>T
ENST00000426263.7:c.883A>T	ENSP00000416293.2:p.Thr295Ser
ENST00000439722.2:c.762A>T	ENSP00000395521.2:n.762A>T
ENST00000475162.3:c.415+1327A>T
ENST00000630287.2:c.*198A>T	ENSP00000486694.1:n.*198A>T
NM_006516.2:c.883A>T	NP_006507.2:p.Thr295Ser
NM_006516.3:c.883A>T	NP_006507.2:p.Thr295Ser
NM_006516.4:c.883A>T MANE Select	NP_006507.2:p.Thr295Ser