Canonical Allele Identifier: CA417408115

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42928943-G-A
• MyVariant Identifiers: chr1:g.43394614G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928943G>A , CM000663.2:g.42928943G>A	GRCh38
NC_000001.10:g.43394614G>A , CM000663.1:g.43394614G>A	GRCh37
NC_000001.9:g.43167201G>A	NCBI36
NG_008232.1:g.35234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1063C>T MANE Select	ENSP00000416293.2:p.Leu355=
ENST00000674545.1:n.557C>T
ENST00000674765.1:c.1029+34C>T	ENSP00000501811.1:n.1029+34C>T
ENST00000675112.1:n.1364C>T
ENST00000676254.1:n.1512C>T
ENST00000426263.7:c.1063C>T	ENSP00000416293.2:p.Leu355=
ENST00000475162.3:c.415+1683C>T
ENST00000630287.2:c.*378C>T	ENSP00000486694.1:n.*378C>T
NM_006516.2:c.1063C>T	NP_006507.2:p.Leu355=
NM_006516.3:c.1063C>T	NP_006507.2:p.Leu355=
NM_006516.4:c.1063C>T MANE Select	NP_006507.2:p.Leu355=