Canonical Allele Identifier: CA8602100

Gene: GRN

Linked Data

• dbSNP Id: rs757468763
• ExAC: 17:42429085 T / C
• gnomAD v2: 17-42429085-T-C
• gnomAD v4: 17-44351717-T-C
• MyVariant Identifiers: chr17:g.42429085T>C (hg19) ; chr17:g.44351717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351717T>C , CM000679.2:g.44351717T>C	GRCh38
NC_000017.10:g.42429085T>C , CM000679.1:g.42429085T>C	GRCh37
NC_000017.9:g.39784611T>C	NCBI36
NG_007886.1:g.11595T>C , LRG_661:g.11595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1101T>C MANE Select	ENSP00000053867.2:p.Asp367=
ENST00000639447.1:c.1101T>C	ENSP00000492014.1:p.Asp367=
ENST00000053867.7:c.1101T>C	ENSP00000053867.2:p.Asp367=
ENST00000586443.1:c.542T>C
ENST00000589265.5:c.630T>C	ENSP00000467616.1:p.Asp210=
ENST00000589923.1:n.359T>C
NM_002087.3:c.1101T>C	NP_002078.1:p.Asp367=
XM_005257253.1:c.1101T>C	XP_005257310.1:p.Asp367=
XM_024450730.1:c.1101T>C	XP_024306498.1:p.Asp367=
NM_002087.4:c.1101T>C MANE Select	NP_002078.1:p.Asp367=