Canonical Allele Identifier: CA339953940

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393390C>A (hg19) ; chr1:g.42927719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927719C>A , CM000663.2:g.42927719C>A	GRCh38
NC_000001.10:g.43393390C>A , CM000663.1:g.43393390C>A	GRCh37
NC_000001.9:g.43165977C>A	NCBI36
NG_008232.1:g.36458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1164G>T MANE Select	ENSP00000416293.2:p.Trp388Cys
ENST00000674545.1:n.1781G>T
ENST00000674765.1:c.1030-862G>T	ENSP00000501811.1:n.1030-862G>T
ENST00000675112.1:n.1465G>T
ENST00000676254.1:n.1613G>T
ENST00000426263.7:c.1164G>T	ENSP00000416293.2:p.Trp388Cys
ENST00000475162.3:c.416-741G>T
ENST00000630287.2:c.*479G>T	ENSP00000486694.1:n.*479G>T
NM_006516.2:c.1164G>T	NP_006507.2:p.Trp388Cys
NM_006516.3:c.1164G>T	NP_006507.2:p.Trp388Cys
NM_006516.4:c.1164G>T MANE Select	NP_006507.2:p.Trp388Cys