Canonical Allele Identifier: CA417407599

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393468G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927797G>C , CM000663.2:g.42927797G>C	GRCh38
NC_000001.10:g.43393468G>C , CM000663.1:g.43393468G>C	GRCh37
NC_000001.9:g.43166055G>C	NCBI36
NG_008232.1:g.36380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1086C>G MANE Select	ENSP00000416293.2:p.Pro362=
ENST00000674545.1:n.1703C>G
ENST00000674765.1:c.1030-940C>G	ENSP00000501811.1:n.1030-940C>G
ENST00000675112.1:n.1387C>G
ENST00000676254.1:n.1535C>G
ENST00000426263.7:c.1086C>G	ENSP00000416293.2:p.Pro362=
ENST00000475162.3:c.416-819C>G
ENST00000630287.2:c.*401C>G	ENSP00000486694.1:n.*401C>G
NM_006516.2:c.1086C>G	NP_006507.2:p.Pro362=
NM_006516.3:c.1086C>G	NP_006507.2:p.Pro362=
NM_006516.4:c.1086C>G MANE Select	NP_006507.2:p.Pro362=