Canonical Allele Identifier: CA8602185

Gene: GRN

Linked Data

• dbSNP Id: rs748404257
• ExAC: 17:42429614 C / T
• gnomAD v2: 17-42429614-C-T
• gnomAD v3: 17-44352246-C-T
• gnomAD v4: 17-44352246-C-T
• MyVariant Identifiers: chr17:g.42429614C>T (hg19) ; chr17:g.44352246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352246C>T , CM000679.2:g.44352246C>T	GRCh38
NC_000017.10:g.42429614C>T , CM000679.1:g.42429614C>T	GRCh37
NC_000017.9:g.39785140C>T	NCBI36
NG_007886.1:g.12124C>T , LRG_661:g.12124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1411C>T MANE Select	ENSP00000053867.2:p.His471Tyr
ENST00000639447.1:c.1137-283C>T	ENSP00000492014.1:n.1137-283C>T
ENST00000053867.7:c.1411C>T	ENSP00000053867.2:p.His471Tyr
ENST00000586242.1:c.45C>T
ENST00000586443.1:c.852C>T
ENST00000589265.5:c.940C>T	ENSP00000467616.1:p.His314Tyr
NM_002087.3:c.1411C>T	NP_002078.1:p.His471Tyr
XM_005257253.1:c.1411C>T	XP_005257310.1:p.His471Tyr
XM_024450730.1:c.1411C>T	XP_024306498.1:p.His471Tyr
NM_002087.4:c.1411C>T MANE Select	NP_002078.1:p.His471Tyr