Canonical Allele Identifier: CA225222

Gene: GRN

Linked Data

• ClinVar Variation Id: 98131
• ClinVar RCV Id: RCV000084433 ; RCV001079794
• dbSNP Id: rs63751088
• ExAC: 17:42427049 G / A
• gnomAD v2: 17-42427049-G-A
• gnomAD v3: 17-44349681-G-A
• gnomAD v4: 17-44349681-G-A
• MyVariant Identifiers: chr17:g.42427049G>A (hg19) ; chr17:g.44349681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44349681G>A , CM000679.2:g.44349681G>A	GRCh38
NC_000017.10:g.42427049G>A , CM000679.1:g.42427049G>A	GRCh37
NC_000017.9:g.39782575G>A	NCBI36
NG_007886.1:g.9559G>A , LRG_661:g.9559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.279G>A MANE Select	ENSP00000053867.2:p.Gly93=
ENST00000639447.1:c.279G>A	ENSP00000492014.1:p.Gly93=
ENST00000053867.7:c.279G>A	ENSP00000053867.2:p.Gly93=
ENST00000586782.5:c.279G>A	ENSP00000468318.1:p.Gly93=
ENST00000587387.5:c.321G>A	ENSP00000467431.1:p.Gly107=
ENST00000587518.5:c.279G>A	ENSP00000465518.1:p.Gly93=
ENST00000587958.1:n.430G>A
ENST00000588143.5:c.279G>A	ENSP00000465375.1:p.Gly93=
ENST00000588170.5:n.375G>A
ENST00000588237.5:c.264+130G>A	ENSP00000466611.1:n.264+130G>A
ENST00000589265.5:c.279G>A	ENSP00000467616.1:p.Gly93=
ENST00000589536.5:c.279G>A	ENSP00000466956.1:p.Gly93=
ENST00000591740.5:c.279G>A	ENSP00000467022.1:p.Gly93=
ENST00000592323.5:n.442G>A
ENST00000592783.5:c.279G>A	ENSP00000467870.1:p.Gly93=
ENST00000593167.5:c.279G>A	ENSP00000466405.1:p.Gly93=
NM_002087.3:c.279G>A	NP_002078.1:p.Gly93=
XM_005257253.1:c.279G>A	XP_005257310.1:p.Gly93=
XM_024450730.1:c.279G>A	XP_024306498.1:p.Gly93=
NM_002087.4:c.279G>A MANE Select	NP_002078.1:p.Gly93=