Canonical Allele Identifier: CA8601977

Gene: GRN

Linked Data

• dbSNP Id: rs63750744
• ExAC: 17:42428168 C / A
• gnomAD v2: 17-42428168-C-A
• gnomAD v4: 17-44350800-C-A
• MyVariant Identifiers: chr17:g.42428168C>A (hg19) ; chr17:g.42428168_42428172delinsAGTGA (hg19) ; chr17:g.44350800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44350800C>A , CM000679.2:g.44350800C>A	GRCh38
NC_000017.10:g.42428168C>A , CM000679.1:g.42428168C>A	GRCh37
NC_000017.9:g.39783694C>A	NCBI36
NG_007886.1:g.10678C>A , LRG_661:g.10678C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000053867.8:c.708C>A MANE Select	ENSP00000053867.2:p.Asn236Lys
ENST00000639447.1:c.708C>A	ENSP00000492014.1:p.Asn236Lys
ENST00000053867.7:c.708C>A	ENSP00000053867.2:p.Asn236Lys
ENST00000586443.1:c.149C>A
ENST00000586782.5:c.*118C>A	ENSP00000468318.1:n.*118C>A
ENST00000588237.5:c.510C>A	ENSP00000466611.1:p.Asn170Lys
ENST00000589265.5:c.462+460C>A	ENSP00000467616.1:n.462+460C>A
ENST00000589923.1:n.29C>A
ENST00000590984.1:n.298C>A
NM_002087.3:c.708C>A	NP_002078.1:p.Asn236Lys
XM_005257253.1:c.708C>A	XP_005257310.1:p.Asn236Lys
XM_024450730.1:c.708C>A	XP_024306498.1:p.Asn236Lys
NM_002087.4:c.708C>A MANE Select	NP_002078.1:p.Asn236Lys