Canonical Allele Identifier: CA399766369

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42429126T>A (hg19) ; chr17:g.44351758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351758T>A , CM000679.2:g.44351758T>A	GRCh38
NC_000017.10:g.42429126T>A , CM000679.1:g.42429126T>A	GRCh37
NC_000017.9:g.39784652T>A	NCBI36
NG_007886.1:g.11636T>A , LRG_661:g.11636T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1142T>A MANE Select	ENSP00000053867.2:p.Leu381His
ENST00000639447.1:c.1136+6T>A	ENSP00000492014.1:n.1136+6T>A
ENST00000053867.7:c.1142T>A	ENSP00000053867.2:p.Leu381His
ENST00000586443.1:c.583T>A
ENST00000589265.5:c.671T>A	ENSP00000467616.1:p.Leu224His
ENST00000589923.1:n.400T>A
NM_002087.3:c.1142T>A	NP_002078.1:p.Leu381His
XM_005257253.1:c.1142T>A	XP_005257310.1:p.Leu381His
XM_024450730.1:c.1142T>A	XP_024306498.1:p.Leu381His
NM_002087.4:c.1142T>A MANE Select	NP_002078.1:p.Leu381His