Canonical Allele Identifier: CA399764061

Gene: GRN

Linked Data

• ClinVar Variation Id: 447476
• ClinVar RCV Id: RCV000516967 ; RCV003766924
• dbSNP Id: rs1555611154
• MyVariant Identifiers: chr17:g.42428058G>A (hg19) ; chr17:g.44350690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44350690G>A , CM000679.2:g.44350690G>A	GRCh38
NC_000017.10:g.42428058G>A , CM000679.1:g.42428058G>A	GRCh37
NC_000017.9:g.39783584G>A	NCBI36
NG_007886.1:g.10568G>A , LRG_661:g.10568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.599-1G>A MANE Select	ENSP00000053867.2:n.599-1G>A
ENST00000639447.1:c.599-1G>A	ENSP00000492014.1:n.599-1G>A
ENST00000053867.7:c.599-1G>A	ENSP00000053867.2:n.599-1G>A
ENST00000586443.1:c.40-1G>A
ENST00000586782.5:c.*9-1G>A	ENSP00000468318.1:n.*9-1G>A
ENST00000588237.5:c.401-1G>A	ENSP00000466611.1:n.401-1G>A
ENST00000589265.5:c.462+350G>A	ENSP00000467616.1:n.462+350G>A
ENST00000590984.1:n.189-1G>A
NM_002087.3:c.599-1G>A	NP_002078.1:n.599-1G>A
XM_005257253.1:c.599-1G>A	XP_005257310.1:n.599-1G>A
XM_024450730.1:c.599-1G>A	XP_024306498.1:n.599-1G>A
NM_002087.4:c.599-1G>A MANE Select	NP_002078.1:n.599-1G>A