Canonical Allele Identifier: CA399765263

Gene: GRN

Linked Data

• ClinVar Variation Id: 2929601
• ClinVar RCV Id: RCV003784767
• dbSNP Id: rs2048375191
• gnomAD v4: 17-44351622-G-C
• MyVariant Identifiers: chr17:g.42428990G>C (hg19) ; chr17:g.44351622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351622G>C , CM000679.2:g.44351622G>C	GRCh38
NC_000017.10:g.42428990G>C , CM000679.1:g.42428990G>C	GRCh37
NC_000017.9:g.39784516G>C	NCBI36
NG_007886.1:g.11500G>C , LRG_661:g.11500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1006G>C MANE Select	ENSP00000053867.2:p.Glu336Gln
ENST00000639447.1:c.1006G>C	ENSP00000492014.1:p.Glu336Gln
ENST00000053867.7:c.1006G>C	ENSP00000053867.2:p.Glu336Gln
ENST00000586443.1:c.447G>C
ENST00000589265.5:c.535G>C	ENSP00000467616.1:p.Glu179Gln
ENST00000589923.1:n.264G>C
NM_002087.3:c.1006G>C	NP_002078.1:p.Glu336Gln
XM_005257253.1:c.1006G>C	XP_005257310.1:p.Glu336Gln
XM_024450730.1:c.1006G>C	XP_024306498.1:p.Glu336Gln
NM_002087.4:c.1006G>C MANE Select	NP_002078.1:p.Glu336Gln