Canonical Allele Identifier: CA645523090

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943218-G-T
• COSMIC: COSM6320382 ; COSM6320383 ; COSM6320384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943218G>T , CM000663.2:g.42943218G>T	GRCh38
NC_000001.10:g.43408889G>T , CM000663.1:g.43408889G>T	GRCh37
NC_000001.9:g.43181476G>T	NCBI36
NG_008232.1:g.20959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+8C>A MANE Select	ENSP00000416293.2:n.114+8C>A
ENST00000674765.1:c.114+8C>A	ENSP00000501811.1:n.114+8C>A
ENST00000675112.1:n.137+8C>A
ENST00000372500.4:c.19-12012C>A	ENSP00000361578.4:n.19-12012C>A
ENST00000415851.6:n.331+8C>A
ENST00000426263.7:c.114+8C>A	ENSP00000416293.2:n.114+8C>A
ENST00000475162.3:c.13+8C>A
ENST00000625233.2:n.322+8C>A
ENST00000628173.1:n.333+8C>A
ENST00000630287.2:c.114+8C>A	ENSP00000486694.1:n.114+8C>A
ENST00000630821.1:n.339C>A
NM_006516.2:c.114+8C>A	NP_006507.2:n.114+8C>A
NM_006516.3:c.114+8C>A	NP_006507.2:n.114+8C>A
NM_006516.4:c.114+8C>A MANE Select	NP_006507.2:n.114+8C>A