Canonical Allele Identifier: CA225193

Gene: GRN

Linked Data

• ClinVar Variation Id: 16008
• ClinVar RCV Id: RCV000084419 ; RCV002513073 ; RCV000017381
• dbSNP Id: rs63751006
• ExAC: 17:42426534 T / C
• gnomAD v2: 17-42426534-T-C
• gnomAD v4: 17-44349166-T-C
• MyVariant Identifiers: chr17:g.42426534T>C (hg19) ; chr17:g.44349166T>C (hg38)
• PubMed: PMID:16862115 ; PMID:16862116

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44349166T>C , CM000679.2:g.44349166T>C	GRCh38
NC_000017.10:g.42426534T>C , CM000679.1:g.42426534T>C	GRCh37
NC_000017.9:g.39782060T>C	NCBI36
NG_007886.1:g.9044T>C , LRG_661:g.9044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.2T>C MANE Select	ENSP00000053867.2:p.Met1Thr
ENST00000639447.1:c.2T>C	ENSP00000492014.1:p.Met1Thr
ENST00000053867.7:c.2T>C	ENSP00000053867.2:p.Met1Thr
ENST00000585512.5:c.2T>C	ENSP00000467745.1:p.Met1Thr
ENST00000586782.5:c.2T>C	ENSP00000468318.1:p.Met1Thr
ENST00000587109.5:c.2T>C	ENSP00000466271.1:p.Met1Thr
ENST00000587387.5:c.2T>C	ENSP00000467431.1:p.Met1Thr
ENST00000587518.5:c.2T>C	ENSP00000465518.1:p.Met1Thr
ENST00000587958.1:n.38T>C
ENST00000588143.5:c.2T>C	ENSP00000465375.1:p.Met1Thr
ENST00000588170.5:n.98T>C
ENST00000588237.5:c.2T>C	ENSP00000466611.1:p.Met1Thr
ENST00000589265.5:c.2T>C	ENSP00000467616.1:p.Met1Thr
ENST00000589536.5:c.2T>C	ENSP00000466956.1:p.Met1Thr
ENST00000591740.5:c.2T>C	ENSP00000467022.1:p.Met1Thr
ENST00000592323.5:n.42T>C
ENST00000592783.5:c.2T>C	ENSP00000467870.1:p.Met1Thr
ENST00000593167.5:c.2T>C	ENSP00000466405.1:p.Met1Thr
NM_002087.3:c.2T>C	NP_002078.1:p.Met1Thr
XM_005257253.1:c.2T>C	XP_005257310.1:p.Met1Thr
XM_024450730.1:c.2T>C	XP_024306498.1:p.Met1Thr
NM_002087.4:c.2T>C MANE Select	NP_002078.1:p.Met1Thr