Canonical Allele Identifier: CA339961095

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396462C>A (hg19) ; chr1:g.42930791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930791C>A , CM000663.2:g.42930791C>A	GRCh38
NC_000001.10:g.43396462C>A , CM000663.1:g.43396462C>A	GRCh37
NC_000001.9:g.43169049C>A	NCBI36
NG_008232.1:g.33386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.351G>T MANE Select	ENSP00000416293.2:p.Lys117Asn
ENST00000674765.1:c.351G>T	ENSP00000501811.1:p.Lys117Asn
ENST00000675112.1:n.374G>T
ENST00000676254.1:n.800G>T
ENST00000372500.4:c.255G>T	ENSP00000361578.4:p.Lys85Asn
ENST00000426263.7:c.351G>T	ENSP00000416293.2:p.Lys117Asn
ENST00000439722.2:c.230G>T	ENSP00000395521.2:n.230G>T
ENST00000475162.3:c.250G>T
ENST00000625233.2:n.559G>T
ENST00000630287.2:c.351G>T	ENSP00000486694.1:p.Lys117Asn
NM_006516.2:c.351G>T	NP_006507.2:p.Lys117Asn
NM_006516.3:c.351G>T	NP_006507.2:p.Lys117Asn
NM_006516.4:c.351G>T MANE Select	NP_006507.2:p.Lys117Asn