Canonical Allele Identifier: CA1139921539
Community Standard Title: NM_006516.4(SLC2A1):c.588G= (p.Pro196=)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929964C= , CM000663.2:g.42929964C= GRCh38
NC_000001.10:g.43395635C= , CM000663.1:g.43395635C= GRCh37
NC_000001.9:g.43168222C= NCBI36
NG_008232.1:g.34213G=

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.588G= MANE Select NP_006507.2:p.Pro196=
ENST00000426263.10:c.588G= MANE Select ENSP00000416293.2:p.Pro196=
NM_006516.2:c.588G= NP_006507.2:p.Pro196=
NM_006516.3:c.588G= NP_006507.2:p.Pro196=
ENST00000426263.7:c.588G= ENSP00000416293.2:p.Pro196=
ENST00000439722.2:c.467G= ENSP00000395521.2:n.467G=
ENST00000475162.3:c.415+662G=
ENST00000630287.2:c.517-184G= ENSP00000486694.1:n.517-184G=
ENST00000674765.1:c.588G= ENSP00000501811.1:p.Pro196=
ENST00000675112.1:n.611G=
ENST00000676254.1:n.1037G=