Canonical Allele Identifier: CA399768394

Gene: GRN

Linked Data

• dbSNP Id: rs373885474
• gnomAD v4: 17-44352061-C-A
• COSMIC: COSM1209084
• MyVariant Identifiers: chr17:g.42429429C>A (hg19) ; chr17:g.44352061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352061C>A , CM000679.2:g.44352061C>A	GRCh38
NC_000017.10:g.42429429C>A , CM000679.1:g.42429429C>A	GRCh37
NC_000017.9:g.39784955C>A	NCBI36
NG_007886.1:g.11939C>A , LRG_661:g.11939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1226C>A MANE Select	ENSP00000053867.2:p.Thr409Lys
ENST00000639447.1:c.1136+309C>A	ENSP00000492014.1:n.1136+309C>A
ENST00000053867.7:c.1226C>A	ENSP00000053867.2:p.Thr409Lys
ENST00000586443.1:c.667C>A
ENST00000589265.5:c.755C>A	ENSP00000467616.1:p.Thr252Lys
NM_002087.3:c.1226C>A	NP_002078.1:p.Thr409Lys
XM_005257253.1:c.1226C>A	XP_005257310.1:p.Thr409Lys
XM_024450730.1:c.1226C>A	XP_024306498.1:p.Thr409Lys
NM_002087.4:c.1226C>A MANE Select	NP_002078.1:p.Thr409Lys