Canonical Allele Identifier: CA399769270

Gene: GRN

Linked Data

• dbSNP Id: rs63750537
• gnomAD v2: 17-42429576-C-A
• MyVariant Identifiers: chr17:g.42429576C>A (hg19) ; chr17:g.44352208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352208C>A , CM000679.2:g.44352208C>A	GRCh38
NC_000017.10:g.42429576C>A , CM000679.1:g.42429576C>A	GRCh37
NC_000017.9:g.39785102C>A	NCBI36
NG_007886.1:g.12086C>A , LRG_661:g.12086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1373C>A MANE Select	ENSP00000053867.2:p.Pro458Gln
ENST00000639447.1:c.1137-321C>A	ENSP00000492014.1:n.1137-321C>A
ENST00000053867.7:c.1373C>A	ENSP00000053867.2:p.Pro458Gln
ENST00000586242.1:c.7C>A
ENST00000586443.1:c.814C>A
ENST00000589265.5:c.902C>A	ENSP00000467616.1:p.Pro301Gln
NM_002087.3:c.1373C>A	NP_002078.1:p.Pro458Gln
XM_005257253.1:c.1373C>A	XP_005257310.1:p.Pro458Gln
XM_024450730.1:c.1373C>A	XP_024306498.1:p.Pro458Gln
NM_002087.4:c.1373C>A MANE Select	NP_002078.1:p.Pro458Gln