Canonical Allele Identifier: CA399765254

Gene: GRN

Linked Data

• ClinVar Variation Id: 2942778
• ClinVar RCV Id: RCV003807944
• MyVariant Identifiers: chr17:g.42428988G>A (hg19) ; chr17:g.44351620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351620G>A , CM000679.2:g.44351620G>A	GRCh38
NC_000017.10:g.42428988G>A , CM000679.1:g.42428988G>A	GRCh37
NC_000017.9:g.39784514G>A	NCBI36
NG_007886.1:g.11498G>A , LRG_661:g.11498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1004G>A MANE Select	ENSP00000053867.2:p.Cys335Tyr
ENST00000639447.1:c.1004G>A	ENSP00000492014.1:p.Cys335Tyr
ENST00000053867.7:c.1004G>A	ENSP00000053867.2:p.Cys335Tyr
ENST00000586443.1:c.445G>A
ENST00000589265.5:c.533G>A	ENSP00000467616.1:p.Cys178Tyr
ENST00000589923.1:n.262G>A
NM_002087.3:c.1004G>A	NP_002078.1:p.Cys335Tyr
XM_005257253.1:c.1004G>A	XP_005257310.1:p.Cys335Tyr
XM_024450730.1:c.1004G>A	XP_024306498.1:p.Cys335Tyr
NM_002087.4:c.1004G>A MANE Select	NP_002078.1:p.Cys335Tyr