Canonical Allele Identifier: CA399769494

Gene: GRN

Linked Data

• ClinVar Variation Id: 447471
• ClinVar RCV Id: RCV000516768 ; RCV000650260
• dbSNP Id: rs1555611412
• MyVariant Identifiers: chr17:g.42429707A>G (hg19) ; chr17:g.44352339A>G (hg38)
• PubMed: PMID:19649643 ; PMID:20142524 ; PMID:22312439

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352339A>G , CM000679.2:g.44352339A>G	GRCh38
NC_000017.10:g.42429707A>G , CM000679.1:g.42429707A>G	GRCh37
NC_000017.9:g.39785233A>G	NCBI36
NG_007886.1:g.12217A>G , LRG_661:g.12217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1414-2A>G MANE Select	ENSP00000053867.2:n.1414-2A>G
ENST00000639447.1:c.1137-190A>G	ENSP00000492014.1:n.1137-190A>G
ENST00000053867.7:c.1414-2A>G	ENSP00000053867.2:n.1414-2A>G
ENST00000586242.1:c.48-2A>G
ENST00000586443.1:c.855-2A>G
ENST00000589265.5:c.943-2A>G	ENSP00000467616.1:n.943-2A>G
NM_002087.3:c.1414-2A>G	NP_002078.1:n.1414-2A>G
XM_005257253.1:c.1414-2A>G	XP_005257310.1:n.1414-2A>G
XM_024450730.1:c.1414-2A>G	XP_024306498.1:n.1414-2A>G
NM_002087.4:c.1414-2A>G MANE Select	NP_002078.1:n.1414-2A>G