Canonical Allele Identifier: CA399766365

Gene: GRN

Linked Data

• gnomAD v4: 17-44351757-C-A
• MyVariant Identifiers: chr17:g.42429125C>A (hg19) ; chr17:g.44351757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351757C>A , CM000679.2:g.44351757C>A	GRCh38
NC_000017.10:g.42429125C>A , CM000679.1:g.42429125C>A	GRCh37
NC_000017.9:g.39784651C>A	NCBI36
NG_007886.1:g.11635C>A , LRG_661:g.11635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1141C>A MANE Select	ENSP00000053867.2:p.Leu381Ile
ENST00000639447.1:c.1136+5C>A	ENSP00000492014.1:n.1136+5C>A
ENST00000053867.7:c.1141C>A	ENSP00000053867.2:p.Leu381Ile
ENST00000586443.1:c.582C>A
ENST00000589265.5:c.670C>A	ENSP00000467616.1:p.Leu224Ile
ENST00000589923.1:n.399C>A
NM_002087.3:c.1141C>A	NP_002078.1:p.Leu381Ile
XM_005257253.1:c.1141C>A	XP_005257310.1:p.Leu381Ile
XM_024450730.1:c.1141C>A	XP_024306498.1:p.Leu381Ile
NM_002087.4:c.1141C>A MANE Select	NP_002078.1:p.Leu381Ile