Canonical Allele Identifier: CA8602163

Gene: GRN

Linked Data

• ClinVar Variation Id: 451952
• ClinVar RCV Id: RCV000519811 ; RCV000764132
• dbSNP Id: rs200645022
• ExAC: 17:42429491 C / G
• gnomAD v2: 17-42429491-C-G
• gnomAD v3: 17-44352123-C-G
• gnomAD v4: 17-44352123-C-G
• MyVariant Identifiers: chr17:g.42429491C>G (hg19) ; chr17:g.44352123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352123C>G , CM000679.2:g.44352123C>G	GRCh38
NC_000017.10:g.42429491C>G , CM000679.1:g.42429491C>G	GRCh37
NC_000017.9:g.39785017C>G	NCBI36
NG_007886.1:g.12001C>G , LRG_661:g.12001C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000053867.8:c.1288C>G MANE Select	ENSP00000053867.2:p.Pro430Ala
ENST00000639447.1:c.1136+371C>G	ENSP00000492014.1:n.1136+371C>G
ENST00000053867.7:c.1288C>G	ENSP00000053867.2:p.Pro430Ala
ENST00000586443.1:c.729C>G
ENST00000589265.5:c.817C>G	ENSP00000467616.1:p.Pro273Ala
NM_002087.3:c.1288C>G	NP_002078.1:p.Pro430Ala
XM_005257253.1:c.1288C>G	XP_005257310.1:p.Pro430Ala
XM_024450730.1:c.1288C>G	XP_024306498.1:p.Pro430Ala
NM_002087.4:c.1288C>G MANE Select	NP_002078.1:p.Pro430Ala