Canonical Allele Identifier: CA225270

Gene: GRN

Linked Data

• ClinVar Variation Id: 98150
• ClinVar RCV Id: RCV000084453 ; RCV000704513 ; RCV000995784 ; RCV001824019
• dbSNP Id: rs63750548
• MyVariant Identifiers: chr17:g.42428403A>G (hg19) ; chr17:g.44351035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351035A>G , CM000679.2:g.44351035A>G	GRCh38
NC_000017.10:g.42428403A>G , CM000679.1:g.42428403A>G	GRCh37
NC_000017.9:g.39783929A>G	NCBI36
NG_007886.1:g.10913A>G , LRG_661:g.10913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.709-2A>G MANE Select	ENSP00000053867.2:n.709-2A>G
ENST00000639447.1:c.709-2A>G	ENSP00000492014.1:n.709-2A>G
ENST00000053867.7:c.709-2A>G	ENSP00000053867.2:n.709-2A>G
ENST00000585348.1:n.125A>G
ENST00000586443.1:c.150-2A>G
ENST00000586782.5:c.*119-2A>G	ENSP00000468318.1:n.*119-2A>G
ENST00000588237.5:c.511-2A>G	ENSP00000466611.1:n.511-2A>G
ENST00000589265.5:c.463-515A>G	ENSP00000467616.1:n.463-515A>G
ENST00000589923.1:n.30-2A>G
ENST00000590984.1:n.299-2A>G
NM_002087.3:c.709-2A>G	NP_002078.1:n.709-2A>G
XM_005257253.1:c.709-2A>G	XP_005257310.1:n.709-2A>G
XM_024450730.1:c.709-2A>G	XP_024306498.1:n.709-2A>G
NM_002087.4:c.709-2A>G MANE Select	NP_002078.1:n.709-2A>G