Canonical Allele Identifier: CA8602158

Gene: GRN

Linked Data

• ClinVar Variation Id: 1371767
• ClinVar RCV Id: RCV001879151
• dbSNP Id: rs199934385
• ExAC: 17:42429464 G / A
• gnomAD v2: 17-42429464-G-A
• gnomAD v3: 17-44352096-G-A
• gnomAD v4: 17-44352096-G-A
• MyVariant Identifiers: chr17:g.42429464G>A (hg19) ; chr17:g.44352096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352096G>A , CM000679.2:g.44352096G>A	GRCh38
NC_000017.10:g.42429464G>A , CM000679.1:g.42429464G>A	GRCh37
NC_000017.9:g.39784990G>A	NCBI36
NG_007886.1:g.11974G>A , LRG_661:g.11974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1261G>A MANE Select	ENSP00000053867.2:p.Glu421Lys
ENST00000639447.1:c.1136+344G>A	ENSP00000492014.1:n.1136+344G>A
ENST00000053867.7:c.1261G>A	ENSP00000053867.2:p.Glu421Lys
ENST00000586443.1:c.702G>A
ENST00000589265.5:c.790G>A	ENSP00000467616.1:p.Glu264Lys
NM_002087.3:c.1261G>A	NP_002078.1:p.Glu421Lys
XM_005257253.1:c.1261G>A	XP_005257310.1:p.Glu421Lys
XM_024450730.1:c.1261G>A	XP_024306498.1:p.Glu421Lys
NM_002087.4:c.1261G>A MANE Select	NP_002078.1:p.Glu421Lys