Canonical Allele Identifier: CA339960763

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930721-G-T
• MyVariant Identifiers: chr1:g.43396392G>T (hg19) ; chr1:g.42930721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930721G>T , CM000663.2:g.42930721G>T	GRCh38
NC_000001.10:g.43396392G>T , CM000663.1:g.43396392G>T	GRCh37
NC_000001.9:g.43168979G>T	NCBI36
NG_008232.1:g.33456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.421C>A MANE Select	ENSP00000416293.2:p.Pro141Thr
ENST00000674765.1:c.421C>A	ENSP00000501811.1:p.Pro141Thr
ENST00000675112.1:n.444C>A
ENST00000676254.1:n.870C>A
ENST00000372500.4:c.325C>A	ENSP00000361578.4:p.Pro109Thr
ENST00000426263.7:c.421C>A	ENSP00000416293.2:p.Pro141Thr
ENST00000439722.2:c.300C>A	ENSP00000395521.2:n.300C>A
ENST00000475162.3:c.320C>A
ENST00000625233.2:n.629C>A
ENST00000630287.2:c.421C>A	ENSP00000486694.1:p.Pro141Thr
NM_006516.2:c.421C>A	NP_006507.2:p.Pro141Thr
NM_006516.3:c.421C>A	NP_006507.2:p.Pro141Thr
NM_006516.4:c.421C>A MANE Select	NP_006507.2:p.Pro141Thr