Canonical Allele Identifier: CA399766510

Gene: GRN

Linked Data

• dbSNP Id: rs2044779598
• gnomAD v4: 17-44351774-G-T
• MyVariant Identifiers: chr17:g.42429142G>T (hg19) ; chr17:g.44351774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351774G>T , CM000679.2:g.44351774G>T	GRCh38
NC_000017.10:g.42429142G>T , CM000679.1:g.42429142G>T	GRCh37
NC_000017.9:g.39784668G>T	NCBI36
NG_007886.1:g.11652G>T , LRG_661:g.11652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1158G>T MANE Select	ENSP00000053867.2:p.Trp386Cys
ENST00000639447.1:c.1136+22G>T	ENSP00000492014.1:n.1136+22G>T
ENST00000053867.7:c.1158G>T	ENSP00000053867.2:p.Trp386Cys
ENST00000586443.1:c.599G>T
ENST00000589265.5:c.687G>T	ENSP00000467616.1:p.Trp229Cys
ENST00000589923.1:n.416G>T
NM_002087.3:c.1158G>T	NP_002078.1:p.Trp386Cys
XM_005257253.1:c.1158G>T	XP_005257310.1:p.Trp386Cys
XM_024450730.1:c.1158G>T	XP_024306498.1:p.Trp386Cys
NM_002087.4:c.1158G>T MANE Select	NP_002078.1:p.Trp386Cys