Canonical Allele Identifier: CA399769785
Community Standard Title: NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352373C>A , CM000679.2:g.44352373C>A GRCh38
NC_000017.10:g.42429741C>A , CM000679.1:g.42429741C>A GRCh37
NC_000017.9:g.39785267C>A NCBI36
NG_007886.1:g.12251C>A , LRG_661:g.12251C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002087.4:c.1446C>A MANE Select NP_002078.1:p.Cys482Ter
ENST00000053867.8:c.1446C>A MANE Select ENSP00000053867.2:p.Cys482Ter
NM_002087.3:c.1446C>A NP_002078.1:p.Cys482Ter
ENST00000053867.7:c.1446C>A ENSP00000053867.2:p.Cys482Ter
ENST00000586242.1:c.80C>A
ENST00000586443.1:c.887C>A
ENST00000589265.5:c.975C>A ENSP00000467616.1:p.Cys325Ter
ENST00000639447.1:c.1137-156C>A ENSP00000492014.1:n.1137-156C>A
XM_005257253.1:c.1446C>A XP_005257310.1:p.Cys482Ter
XM_024450730.1:c.1446C>A XP_024306498.1:p.Cys482Ter