Canonical Allele Identifier: CA8602290
Gene: GRN HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44352758A>T
GRCh37 chr17:g.42430126A>T
Revel Score:
ENST00000053867 (MANE Select) 0.520
ENST00000357351 0.520
ENST00000393566 0.520
gnomAD v2:
17:42430126 A / T
gnomAD v3:
17:44352758 A / T
gnomAD v4:
chr17-44352758-A-T
Joint Max Group AF 0.00118838 (AMR)
Genomes Max Group AF 0.00035409 (AMR)
Exomes Max Group AF 0.00139158 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352758A>T , CM000679.2:g.44352758A>T GRCh38
NC_000017.10:g.42430126A>T , CM000679.1:g.42430126A>T GRCh37
NC_000017.9:g.39785652A>T NCBI36
NG_007886.1:g.12636A>T , LRG_661:g.12636A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1742A>T MANE Select ENSP00000053867.2:p.Asp581Val
ENST00000639447.1:c.1277A>T ENSP00000492014.1:p.Asp426Val
ENST00000053867.7:c.1742A>T ENSP00000053867.2:p.Asp581Val
ENST00000586242.1:c.321A>T
ENST00000586443.1:c.1272A>T
ENST00000589265.5:c.1271A>T ENSP00000467616.1:p.Asp424Val
NM_002087.3:c.1742A>T NP_002078.1:p.Asp581Val
XM_005257253.1:c.1742A>T XP_005257310.1:p.Asp581Val
XM_024450730.1:c.1742A>T XP_024306498.1:p.Asp581Val
NM_002087.4:c.1742A>T MANE Select NP_002078.1:p.Asp581Val
Search 100 bp 5'
Search 100 bp 3'