Canonical Allele Identifier: CA8602176

Gene: GRN

Linked Data

• dbSNP Id: rs765116273
• ExAC: 17:42429549 G / A
• gnomAD v2: 17-42429549-G-A
• gnomAD v4: 17-44352181-G-A
• MyVariant Identifiers: chr17:g.42429549G>A (hg19) ; chr17:g.44352181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352181G>A , CM000679.2:g.44352181G>A	GRCh38
NC_000017.10:g.42429549G>A , CM000679.1:g.42429549G>A	GRCh37
NC_000017.9:g.39785075G>A	NCBI36
NG_007886.1:g.12059G>A , LRG_661:g.12059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1346G>A MANE Select	ENSP00000053867.2:p.Ser449Asn
ENST00000639447.1:c.1137-348G>A	ENSP00000492014.1:n.1137-348G>A
ENST00000053867.7:c.1346G>A	ENSP00000053867.2:p.Ser449Asn
ENST00000586443.1:c.787G>A
ENST00000589265.5:c.875G>A	ENSP00000467616.1:p.Ser292Asn
NM_002087.3:c.1346G>A	NP_002078.1:p.Ser449Asn
XM_005257253.1:c.1346G>A	XP_005257310.1:p.Ser449Asn
XM_024450730.1:c.1346G>A	XP_024306498.1:p.Ser449Asn
NM_002087.4:c.1346G>A MANE Select	NP_002078.1:p.Ser449Asn