Canonical Allele Identifier: CA399764943

Gene: GRN

Linked Data

• ClinVar Variation Id: 447479
• ClinVar RCV Id: RCV000517994 ; RCV001218285 ; RCV003234777
• dbSNP Id: rs1555611253
• MyVariant Identifiers: chr17:g.42428793C>T (hg19) ; chr17:g.44351425C>T (hg38)
• PubMed: PMID:18234697 ; PMID:19884572 ; PMID:27311648

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351425C>T , CM000679.2:g.44351425C>T	GRCh38
NC_000017.10:g.42428793C>T , CM000679.1:g.42428793C>T	GRCh37
NC_000017.9:g.39784319C>T	NCBI36
NG_007886.1:g.11303C>T , LRG_661:g.11303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.898C>T MANE Select	ENSP00000053867.2:p.Gln300Ter
ENST00000639447.1:c.898C>T	ENSP00000492014.1:p.Gln300Ter
ENST00000053867.7:c.898C>T	ENSP00000053867.2:p.Gln300Ter
ENST00000585348.1:n.515C>T
ENST00000586443.1:c.339C>T
ENST00000589265.5:c.463-125C>T	ENSP00000467616.1:n.463-125C>T
ENST00000589923.1:n.156C>T
NM_002087.3:c.898C>T	NP_002078.1:p.Gln300Ter
XM_005257253.1:c.898C>T	XP_005257310.1:p.Gln300Ter
XM_024450730.1:c.898C>T	XP_024306498.1:p.Gln300Ter
NM_002087.4:c.898C>T MANE Select	NP_002078.1:p.Gln300Ter