Canonical Allele Identifier: CA399769384

Gene: GRN

Linked Data

• gnomAD v4: 17-44352231-T-C
• MyVariant Identifiers: chr17:g.42429599T>C (hg19) ; chr17:g.44352231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352231T>C , CM000679.2:g.44352231T>C	GRCh38
NC_000017.10:g.42429599T>C , CM000679.1:g.42429599T>C	GRCh37
NC_000017.9:g.39785125T>C	NCBI36
NG_007886.1:g.12109T>C , LRG_661:g.12109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1396T>C MANE Select	ENSP00000053867.2:p.Cys466Arg
ENST00000639447.1:c.1137-298T>C	ENSP00000492014.1:n.1137-298T>C
ENST00000053867.7:c.1396T>C	ENSP00000053867.2:p.Cys466Arg
ENST00000586242.1:c.30T>C
ENST00000586443.1:c.837T>C
ENST00000589265.5:c.925T>C	ENSP00000467616.1:p.Cys309Arg
NM_002087.3:c.1396T>C	NP_002078.1:p.Cys466Arg
XM_005257253.1:c.1396T>C	XP_005257310.1:p.Cys466Arg
XM_024450730.1:c.1396T>C	XP_024306498.1:p.Cys466Arg
NM_002087.4:c.1396T>C MANE Select	NP_002078.1:p.Cys466Arg