Canonical Allele Identifier: CA417543442

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395429T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929758T>G , CM000663.2:g.42929758T>G	GRCh38
NC_000001.10:g.43395429T>G , CM000663.1:g.43395429T>G	GRCh37
NC_000001.9:g.43168016T>G	NCBI36
NG_008232.1:g.34419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.702A>C MANE Select	ENSP00000416293.2:p.Thr234=
ENST00000669445.1:c.57-25A>C
ENST00000674765.1:c.702A>C	ENSP00000501811.1:p.Thr234=
ENST00000675112.1:n.725A>C
ENST00000676254.1:n.1151A>C
ENST00000426263.7:c.702A>C	ENSP00000416293.2:p.Thr234=
ENST00000439722.2:c.581A>C	ENSP00000395521.2:n.581A>C
ENST00000475162.3:c.415+868A>C
ENST00000630287.2:c.*17A>C	ENSP00000486694.1:n.*17A>C
NM_006516.2:c.702A>C	NP_006507.2:p.Thr234=
NM_006516.3:c.702A>C	NP_006507.2:p.Thr234=
NM_006516.4:c.702A>C MANE Select	NP_006507.2:p.Thr234=