Canonical Allele Identifier: CA8602089

Gene: GRN

Linked Data

• dbSNP Id: rs774100540
• ExAC: 17:42429017 A / G
• gnomAD v2: 17-42429017-A-G
• gnomAD v3: 17-44351649-A-G
• gnomAD v4: 17-44351649-A-G
• MyVariant Identifiers: chr17:g.42429017A>G (hg19) ; chr17:g.44351649A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351649A>G , CM000679.2:g.44351649A>G	GRCh38
NC_000017.10:g.42429017A>G , CM000679.1:g.42429017A>G	GRCh37
NC_000017.9:g.39784543A>G	NCBI36
NG_007886.1:g.11527A>G , LRG_661:g.11527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1033A>G MANE Select	ENSP00000053867.2:p.Met345Val
ENST00000639447.1:c.1033A>G	ENSP00000492014.1:p.Met345Val
ENST00000053867.7:c.1033A>G	ENSP00000053867.2:p.Met345Val
ENST00000586443.1:c.474A>G
ENST00000589265.5:c.562A>G	ENSP00000467616.1:p.Met188Val
ENST00000589923.1:n.291A>G
NM_002087.3:c.1033A>G	NP_002078.1:p.Met345Val
XM_005257253.1:c.1033A>G	XP_005257310.1:p.Met345Val
XM_024450730.1:c.1033A>G	XP_024306498.1:p.Met345Val
NM_002087.4:c.1033A>G MANE Select	NP_002078.1:p.Met345Val