Canonical Allele Identifier: CA339957946

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395379A>C (hg19) ; chr1:g.42929708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929708A>C , CM000663.2:g.42929708A>C	GRCh38
NC_000001.10:g.43395379A>C , CM000663.1:g.43395379A>C	GRCh37
NC_000001.9:g.43167966A>C	NCBI36
NG_008232.1:g.34469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.752T>G MANE Select	ENSP00000416293.2:p.Met251Arg
ENST00000669445.1:c.82T>G
ENST00000674765.1:c.752T>G	ENSP00000501811.1:p.Met251Arg
ENST00000675112.1:n.775T>G
ENST00000676254.1:n.1201T>G
ENST00000426263.7:c.752T>G	ENSP00000416293.2:p.Met251Arg
ENST00000439722.2:c.631T>G	ENSP00000395521.2:n.631T>G
ENST00000475162.3:c.415+918T>G
ENST00000630287.2:c.*67T>G	ENSP00000486694.1:n.*67T>G
NM_006516.2:c.752T>G	NP_006507.2:p.Met251Arg
NM_006516.3:c.752T>G	NP_006507.2:p.Met251Arg
NM_006516.4:c.752T>G MANE Select	NP_006507.2:p.Met251Arg