Canonical Allele Identifier: CA399765702

Gene: GRN

Linked Data

• ClinVar Variation Id: 447470
• ClinVar RCV Id: RCV000517776 ; RCV002527479 ; RCV004553130
• dbSNP Id: rs1555611293
• gnomAD v4: 17-44351688-C-T
• MyVariant Identifiers: chr17:g.42429056C>T (hg19) ; chr17:g.44351688C>T (hg38)
• PubMed: PMID:21482928 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351688C>T , CM000679.2:g.44351688C>T	GRCh38
NC_000017.10:g.42429056C>T , CM000679.1:g.42429056C>T	GRCh37
NC_000017.9:g.39784582C>T	NCBI36
NG_007886.1:g.11566C>T , LRG_661:g.11566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1072C>T MANE Select	ENSP00000053867.2:p.Gln358Ter
ENST00000639447.1:c.1072C>T	ENSP00000492014.1:p.Gln358Ter
ENST00000053867.7:c.1072C>T	ENSP00000053867.2:p.Gln358Ter
ENST00000586443.1:c.513C>T
ENST00000589265.5:c.601C>T	ENSP00000467616.1:p.Gln201Ter
ENST00000589923.1:n.330C>T
NM_002087.3:c.1072C>T	NP_002078.1:p.Gln358Ter
XM_005257253.1:c.1072C>T	XP_005257310.1:p.Gln358Ter
XM_024450730.1:c.1072C>T	XP_024306498.1:p.Gln358Ter
NM_002087.4:c.1072C>T MANE Select	NP_002078.1:p.Gln358Ter