Canonical Allele Identifier: CA225294

Gene: GRN

Linked Data

• ClinVar Variation Id: 98162
• ClinVar RCV Id: RCV000084465 ; RCV001854477
• dbSNP Id: rs63751177
• gnomAD v4: 17-44351438-G-A
• MyVariant Identifiers: chr17:g.42428806G>A (hg19) ; chr17:g.44351438G>A (hg38)
• PubMed: PMID:16950801 ; PMID:17356379 ; PMID:17698705 ; PMID:18223198 ; PMID:20142524 ; PMID:23338682 ; PMID:26674655

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351438G>A , CM000679.2:g.44351438G>A	GRCh38
NC_000017.10:g.42428806G>A , CM000679.1:g.42428806G>A	GRCh37
NC_000017.9:g.39784332G>A	NCBI36
NG_007886.1:g.11316G>A , LRG_661:g.11316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.911G>A MANE Select	ENSP00000053867.2:p.Trp304Ter
ENST00000639447.1:c.911G>A	ENSP00000492014.1:p.Trp304Ter
ENST00000053867.7:c.911G>A	ENSP00000053867.2:p.Trp304Ter
ENST00000585348.1:n.528G>A
ENST00000586443.1:c.352G>A
ENST00000589265.5:c.463-112G>A	ENSP00000467616.1:n.463-112G>A
ENST00000589923.1:n.169G>A
NM_002087.3:c.911G>A	NP_002078.1:p.Trp304Ter
XM_005257253.1:c.911G>A	XP_005257310.1:p.Trp304Ter
XM_024450730.1:c.911G>A	XP_024306498.1:p.Trp304Ter
NM_002087.4:c.911G>A MANE Select	NP_002078.1:p.Trp304Ter