Canonical Allele Identifier: CA8602235

Gene: GRN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352482G>A , CM000679.2:g.44352482G>A	GRCh38
NC_000017.10:g.42429850G>A , CM000679.1:g.42429850G>A	GRCh37
NC_000017.9:g.39785376G>A	NCBI36
NG_007886.1:g.12360G>A , LRG_661:g.12360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1555G>A MANE Select	ENSP00000053867.2:p.Val519Met
ENST00000639447.1:c.1137-47G>A	ENSP00000492014.1:n.1137-47G>A
ENST00000053867.7:c.1555G>A	ENSP00000053867.2:p.Val519Met
ENST00000586242.1:c.189G>A
ENST00000586443.1:c.996G>A
ENST00000589265.5:c.1084G>A	ENSP00000467616.1:p.Val362Met
NM_002087.3:c.1555G>A	NP_002078.1:p.Val519Met
XM_005257253.1:c.1555G>A	XP_005257310.1:p.Val519Met
XM_024450730.1:c.1555G>A	XP_024306498.1:p.Val519Met
NM_002087.4:c.1555G>A MANE Select	NP_002078.1:p.Val519Met