Canonical Allele Identifier: CA339953884

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393367C>T (hg19) ; chr1:g.42927696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927696C>T , CM000663.2:g.42927696C>T	GRCh38
NC_000001.10:g.43393367C>T , CM000663.1:g.43393367C>T	GRCh37
NC_000001.9:g.43165954C>T	NCBI36
NG_008232.1:g.36481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1187G>A MANE Select	ENSP00000416293.2:p.Ser396Asn
ENST00000674545.1:n.1804G>A
ENST00000674765.1:c.1030-839G>A	ENSP00000501811.1:n.1030-839G>A
ENST00000675112.1:n.1488G>A
ENST00000676254.1:n.1636G>A
ENST00000426263.7:c.1187G>A	ENSP00000416293.2:p.Ser396Asn
ENST00000475162.3:c.416-718G>A
ENST00000630287.2:c.*502G>A	ENSP00000486694.1:n.*502G>A
NM_006516.2:c.1187G>A	NP_006507.2:p.Ser396Asn
NM_006516.3:c.1187G>A	NP_006507.2:p.Ser396Asn
NM_006516.4:c.1187G>A MANE Select	NP_006507.2:p.Ser396Asn