Canonical Allele Identifier: CA8602196

Gene: GRN

Linked Data

• dbSNP Id: rs751449174
• ExAC: 17:42429670 C / G
• gnomAD v2: 17-42429670-C-G
• gnomAD v4: 17-44352302-C-G
• MyVariant Identifiers: chr17:g.42429670C>G (hg19) ; chr17:g.44352302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352302C>G , CM000679.2:g.44352302C>G	GRCh38
NC_000017.10:g.42429670C>G , CM000679.1:g.42429670C>G	GRCh37
NC_000017.9:g.39785196C>G	NCBI36
NG_007886.1:g.12180C>G , LRG_661:g.12180C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1414-39C>G MANE Select	ENSP00000053867.2:n.1414-39C>G
ENST00000639447.1:c.1137-227C>G	ENSP00000492014.1:n.1137-227C>G
ENST00000053867.7:c.1414-39C>G	ENSP00000053867.2:n.1414-39C>G
ENST00000586242.1:c.48-39C>G
ENST00000586443.1:c.855-39C>G
ENST00000589265.5:c.943-39C>G	ENSP00000467616.1:n.943-39C>G
NM_002087.3:c.1414-39C>G	NP_002078.1:n.1414-39C>G
XM_005257253.1:c.1414-39C>G	XP_005257310.1:n.1414-39C>G
XM_024450730.1:c.1414-39C>G	XP_024306498.1:n.1414-39C>G
NM_002087.4:c.1414-39C>G MANE Select	NP_002078.1:n.1414-39C>G