Canonical Allele Identifier: CA2261354563
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352242G= , CM000679.2:g.44352242G= GRCh38
NC_000017.10:g.42429610G= , CM000679.1:g.42429610G= GRCh37
NC_000017.9:g.39785136G= NCBI36
NG_007886.1:g.12120G= , LRG_661:g.12120G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1407G= MANE Select ENSP00000053867.2:p.Leu469=
ENST00000639447.1:c.1137-287G= ENSP00000492014.1:n.1137-287G=
ENST00000053867.7:c.1407G= ENSP00000053867.2:p.Leu469=
ENST00000586242.1:c.41G=
ENST00000586443.1:c.848G=
ENST00000589265.5:c.936G= ENSP00000467616.1:p.Leu312=
NM_002087.3:c.1407G= NP_002078.1:p.Leu469=
XM_005257253.1:c.1407G= XP_005257310.1:p.Leu469=
XM_024450730.1:c.1407G= XP_024306498.1:p.Leu469=
NM_002087.4:c.1407G= MANE Select NP_002078.1:p.Leu469=