Canonical Allele Identifier: CA225285

Gene: GRN

Linked Data

• ClinVar Variation Id: 98157
• ClinVar RCV Id: RCV000084460 ; RCV000699101
• dbSNP Id: rs63751296
• MyVariant Identifiers: chr17:g.42428730G>C (hg19) ; chr17:g.44351362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351362G>C , CM000679.2:g.44351362G>C	GRCh38
NC_000017.10:g.42428730G>C , CM000679.1:g.42428730G>C	GRCh37
NC_000017.9:g.39784256G>C	NCBI36
NG_007886.1:g.11240G>C , LRG_661:g.11240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.836-1G>C MANE Select	ENSP00000053867.2:n.836-1G>C
ENST00000639447.1:c.836-1G>C	ENSP00000492014.1:n.836-1G>C
ENST00000053867.7:c.836-1G>C	ENSP00000053867.2:n.836-1G>C
ENST00000585348.1:n.452G>C
ENST00000586443.1:c.277-1G>C
ENST00000589265.5:c.463-188G>C	ENSP00000467616.1:n.463-188G>C
ENST00000589923.1:n.94-1G>C
NM_002087.3:c.836-1G>C	NP_002078.1:n.836-1G>C
XM_005257253.1:c.836-1G>C	XP_005257310.1:n.836-1G>C
XM_024450730.1:c.836-1G>C	XP_024306498.1:n.836-1G>C
NM_002087.4:c.836-1G>C MANE Select	NP_002078.1:n.836-1G>C