Canonical Allele Identifier: CA399759589
Gene: GRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44349434G>C , CM000679.2:g.44349434G>C GRCh38
NC_000017.10:g.42426802G>C , CM000679.1:g.42426802G>C GRCh37
NC_000017.9:g.39782328G>C NCBI36
NG_007886.1:g.9312G>C , LRG_661:g.9312G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.147G>C MANE Select ENSP00000053867.2:p.Trp49Cys
ENST00000639447.1:c.147G>C ENSP00000492014.1:p.Trp49Cys
ENST00000053867.7:c.147G>C ENSP00000053867.2:p.Trp49Cys
ENST00000586782.5:c.147G>C ENSP00000468318.1:p.Trp49Cys
ENST00000587109.5:c.147G>C ENSP00000466271.1:p.Trp49Cys
ENST00000587387.5:c.147G>C ENSP00000467431.1:p.Trp49Cys
ENST00000587518.5:c.147G>C ENSP00000465518.1:p.Trp49Cys
ENST00000587958.1:n.183G>C
ENST00000588143.5:c.147G>C ENSP00000465375.1:p.Trp49Cys
ENST00000588170.5:n.243G>C
ENST00000588237.5:c.147G>C ENSP00000466611.1:p.Trp49Cys
ENST00000589265.5:c.147G>C ENSP00000467616.1:p.Trp49Cys
ENST00000589536.5:c.147G>C ENSP00000466956.1:p.Trp49Cys
ENST00000591740.5:c.147G>C ENSP00000467022.1:p.Trp49Cys
ENST00000592323.5:n.310G>C
ENST00000592783.5:c.147G>C ENSP00000467870.1:p.Trp49Cys
ENST00000593167.5:c.147G>C ENSP00000466405.1:p.Trp49Cys
NM_002087.3:c.147G>C NP_002078.1:p.Trp49Cys
XM_005257253.1:c.147G>C XP_005257310.1:p.Trp49Cys
XM_024450730.1:c.147G>C XP_024306498.1:p.Trp49Cys
NM_002087.4:c.147G>C MANE Select NP_002078.1:p.Trp49Cys