Canonical Allele Identifier: CA500622407

Gene: GRN

Linked Data

• ClinVar Variation Id: 493214
• ClinVar RCV Id: RCV000584933
• dbSNP Id: rs779394553
• MyVariant Identifiers: chr17:g.42429610G>A (hg19) ; chr17:g.44352242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352242G>A , CM000679.2:g.44352242G>A	GRCh38
NC_000017.10:g.42429610G>A , CM000679.1:g.42429610G>A	GRCh37
NC_000017.9:g.39785136G>A	NCBI36
NG_007886.1:g.12120G>A , LRG_661:g.12120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1407G>A MANE Select	ENSP00000053867.2:p.Leu469=
ENST00000639447.1:c.1137-287G>A	ENSP00000492014.1:n.1137-287G>A
ENST00000053867.7:c.1407G>A	ENSP00000053867.2:p.Leu469=
ENST00000586242.1:c.41G>A
ENST00000586443.1:c.848G>A
ENST00000589265.5:c.936G>A	ENSP00000467616.1:p.Leu312=
NM_002087.3:c.1407G>A	NP_002078.1:p.Leu469=
XM_005257253.1:c.1407G>A	XP_005257310.1:p.Leu469=
XM_024450730.1:c.1407G>A	XP_024306498.1:p.Leu469=
NM_002087.4:c.1407G>A MANE Select	NP_002078.1:p.Leu469=