Canonical Allele Identifier: CA225330

Gene: GRN

Linked Data

• ClinVar Variation Id: 98178
• ClinVar RCV Id: RCV000084481 ; RCV000764131 ; RCV001122276 ; RCV001705812 ; RCV002514501
• dbSNP Id: rs63751100
• ExAC: 17:42429456 G / A
• gnomAD v2: 17-42429456-G-A
• gnomAD v3: 17-44352088-G-A
• gnomAD v4: 17-44352088-G-A
• MyVariant Identifiers: chr17:g.42429456G>A (hg19) ; chr17:g.44352088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352088G>A , CM000679.2:g.44352088G>A	GRCh38
NC_000017.10:g.42429456G>A , CM000679.1:g.42429456G>A	GRCh37
NC_000017.9:g.39784982G>A	NCBI36
NG_007886.1:g.11966G>A , LRG_661:g.11966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1253G>A MANE Select	ENSP00000053867.2:p.Arg418Gln
ENST00000639447.1:c.1136+336G>A	ENSP00000492014.1:n.1136+336G>A
ENST00000053867.7:c.1253G>A	ENSP00000053867.2:p.Arg418Gln
ENST00000586443.1:c.694G>A
ENST00000589265.5:c.782G>A	ENSP00000467616.1:p.Arg261Gln
NM_002087.3:c.1253G>A	NP_002078.1:p.Arg418Gln
XM_005257253.1:c.1253G>A	XP_005257310.1:p.Arg418Gln
XM_024450730.1:c.1253G>A	XP_024306498.1:p.Arg418Gln
NM_002087.4:c.1253G>A MANE Select	NP_002078.1:p.Arg418Gln