Canonical Allele Identifier: CA8602156

Gene: GRN

Linked Data

• dbSNP Id: rs767675579
• ExAC: 17:42429461 A / T
• gnomAD v2: 17-42429461-A-T
• gnomAD v4: 17-44352093-A-T
• MyVariant Identifiers: chr17:g.42429461A>T (hg19) ; chr17:g.44352093A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352093A>T , CM000679.2:g.44352093A>T	GRCh38
NC_000017.10:g.42429461A>T , CM000679.1:g.42429461A>T	GRCh37
NC_000017.9:g.39784987A>T	NCBI36
NG_007886.1:g.11971A>T , LRG_661:g.11971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1258A>T MANE Select	ENSP00000053867.2:p.Ser420Cys
ENST00000639447.1:c.1136+341A>T	ENSP00000492014.1:n.1136+341A>T
ENST00000053867.7:c.1258A>T	ENSP00000053867.2:p.Ser420Cys
ENST00000586443.1:c.699A>T
ENST00000589265.5:c.787A>T	ENSP00000467616.1:p.Ser263Cys
NM_002087.3:c.1258A>T	NP_002078.1:p.Ser420Cys
XM_005257253.1:c.1258A>T	XP_005257310.1:p.Ser420Cys
XM_024450730.1:c.1258A>T	XP_024306498.1:p.Ser420Cys
NM_002087.4:c.1258A>T MANE Select	NP_002078.1:p.Ser420Cys