Canonical Allele Identifier: CA339953659

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393302C>G (hg19) ; chr1:g.42927631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927631C>G , CM000663.2:g.42927631C>G	GRCh38
NC_000001.10:g.43393302C>G , CM000663.1:g.43393302C>G	GRCh37
NC_000001.9:g.43165889C>G	NCBI36
NG_008232.1:g.36546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1252G>C MANE Select	ENSP00000416293.2:p.Val418Leu
ENST00000674545.1:n.1869G>C
ENST00000674765.1:c.1030-774G>C	ENSP00000501811.1:n.1030-774G>C
ENST00000675112.1:n.1553G>C
ENST00000676254.1:n.1701G>C
ENST00000426263.7:c.1252G>C	ENSP00000416293.2:p.Val418Leu
ENST00000475162.3:c.416-653G>C
ENST00000630287.2:c.*567G>C	ENSP00000486694.1:n.*567G>C
NM_006516.2:c.1252G>C	NP_006507.2:p.Val418Leu
NM_006516.3:c.1252G>C	NP_006507.2:p.Val418Leu
NM_006516.4:c.1252G>C MANE Select	NP_006507.2:p.Val418Leu