Canonical Allele Identifier: CA399765243

Gene: GRN

Linked Data

• ClinVar Variation Id: 1961872
• ClinVar RCV Id: RCV002721006
• dbSNP Id: rs2048375170
• gnomAD v4: 17-44351617-C-T
• MyVariant Identifiers: chr17:g.42428985C>T (hg19) ; chr17:g.44351617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351617C>T , CM000679.2:g.44351617C>T	GRCh38
NC_000017.10:g.42428985C>T , CM000679.1:g.42428985C>T	GRCh37
NC_000017.9:g.39784511C>T	NCBI36
NG_007886.1:g.11495C>T , LRG_661:g.11495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1001C>T MANE Select	ENSP00000053867.2:p.Thr334Ile
ENST00000639447.1:c.1001C>T	ENSP00000492014.1:p.Thr334Ile
ENST00000053867.7:c.1001C>T	ENSP00000053867.2:p.Thr334Ile
ENST00000586443.1:c.442C>T
ENST00000589265.5:c.530C>T	ENSP00000467616.1:p.Thr177Ile
ENST00000589923.1:n.259C>T
NM_002087.3:c.1001C>T	NP_002078.1:p.Thr334Ile
XM_005257253.1:c.1001C>T	XP_005257310.1:p.Thr334Ile
XM_024450730.1:c.1001C>T	XP_024306498.1:p.Thr334Ile
NM_002087.4:c.1001C>T MANE Select	NP_002078.1:p.Thr334Ile