Canonical Allele Identifier: CA339958314

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395445T>A (hg19) ; chr1:g.42929774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929774T>A , CM000663.2:g.42929774T>A	GRCh38
NC_000001.10:g.43395445T>A , CM000663.1:g.43395445T>A	GRCh37
NC_000001.9:g.43168032T>A	NCBI36
NG_008232.1:g.34403A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.686A>T MANE Select	ENSP00000416293.2:p.Lys229Met
ENST00000669445.1:c.57-41A>T
ENST00000674765.1:c.686A>T	ENSP00000501811.1:p.Lys229Met
ENST00000675112.1:n.709A>T
ENST00000676254.1:n.1135A>T
ENST00000426263.7:c.686A>T	ENSP00000416293.2:p.Lys229Met
ENST00000439722.2:c.565A>T	ENSP00000395521.2:n.565A>T
ENST00000475162.3:c.415+852A>T
ENST00000630287.2:c.*1A>T	ENSP00000486694.1:n.*1A>T
NM_006516.2:c.686A>T	NP_006507.2:p.Lys229Met
NM_006516.3:c.686A>T	NP_006507.2:p.Lys229Met
NM_006516.4:c.686A>T MANE Select	NP_006507.2:p.Lys229Met