Canonical Allele Identifier: CA290926717
Gene: GRN HGNC NCBI

Linked Data

dbSNP Id: rs1046139536

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352122G>A , CM000679.2:g.44352122G>A GRCh38
NC_000017.10:g.42429490G>A , CM000679.1:g.42429490G>A GRCh37
NC_000017.9:g.39785016G>A NCBI36
NG_007886.1:g.12000G>A , LRG_661:g.12000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1287G>A MANE Select ENSP00000053867.2:p.Met429Ile
ENST00000639447.1:c.1136+370G>A ENSP00000492014.1:n.1136+370G>A
ENST00000053867.7:c.1287G>A ENSP00000053867.2:p.Met429Ile
ENST00000586443.1:c.728G>A
ENST00000589265.5:c.816G>A ENSP00000467616.1:p.Met272Ile
NM_002087.3:c.1287G>A NP_002078.1:p.Met429Ile
XM_005257253.1:c.1287G>A XP_005257310.1:p.Met429Ile
XM_024450730.1:c.1287G>A XP_024306498.1:p.Met429Ile
NM_002087.4:c.1287G>A MANE Select NP_002078.1:p.Met429Ile