Canonical Allele Identifier: CA339954318

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393451C>A (hg19) ; chr1:g.42927780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927780C>A , CM000663.2:g.42927780C>A	GRCh38
NC_000001.10:g.43393451C>A , CM000663.1:g.43393451C>A	GRCh37
NC_000001.9:g.43166038C>A	NCBI36
NG_008232.1:g.36397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1103G>T MANE Select	ENSP00000416293.2:p.Ser368Ile
ENST00000674545.1:n.1720G>T
ENST00000674765.1:c.1030-923G>T	ENSP00000501811.1:n.1030-923G>T
ENST00000675112.1:n.1404G>T
ENST00000676254.1:n.1552G>T
ENST00000426263.7:c.1103G>T	ENSP00000416293.2:p.Ser368Ile
ENST00000475162.3:c.416-802G>T
ENST00000630287.2:c.*418G>T	ENSP00000486694.1:n.*418G>T
NM_006516.2:c.1103G>T	NP_006507.2:p.Ser368Ile
NM_006516.3:c.1103G>T	NP_006507.2:p.Ser368Ile
NM_006516.4:c.1103G>T MANE Select	NP_006507.2:p.Ser368Ile