Canonical Allele Identifier: CA8602184

Gene: GRN

Linked Data

• dbSNP Id: rs779394553
• ExAC: 17:42429610 G / T
• gnomAD v2: 17-42429610-G-T
• gnomAD v4: 17-44352242-G-T
• MyVariant Identifiers: chr17:g.42429610G>T (hg19) ; chr17:g.44352242G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1407G>T MANE Select	ENSP00000053867.2:p.Leu469Phe
ENST00000639447.1:c.1137-287G>T	ENSP00000492014.1:n.1137-287G>T
ENST00000053867.7:c.1407G>T	ENSP00000053867.2:p.Leu469Phe
ENST00000586242.1:c.41G>T
ENST00000586443.1:c.848G>T
ENST00000589265.5:c.936G>T	ENSP00000467616.1:p.Leu312Phe
NM_002087.3:c.1407G>T	NP_002078.1:p.Leu469Phe
XM_005257253.1:c.1407G>T	XP_005257310.1:p.Leu469Phe
XM_024450730.1:c.1407G>T	XP_024306498.1:p.Leu469Phe
NM_002087.4:c.1407G>T MANE Select	NP_002078.1:p.Leu469Phe