Canonical Allele Identifier: CA8602085
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2683429
ClinVar RCV Id: RCV003480249
dbSNP Id: rs769849283

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351631C>G , CM000679.2:g.44351631C>G GRCh38
NC_000017.10:g.42428999C>G , CM000679.1:g.42428999C>G GRCh37
NC_000017.9:g.39784525C>G NCBI36
NG_007886.1:g.11509C>G , LRG_661:g.11509C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1015C>G MANE Select ENSP00000053867.2:p.Pro339Ala
ENST00000639447.1:c.1015C>G ENSP00000492014.1:p.Pro339Ala
ENST00000053867.7:c.1015C>G ENSP00000053867.2:p.Pro339Ala
ENST00000586443.1:c.456C>G
ENST00000589265.5:c.544C>G ENSP00000467616.1:p.Pro182Ala
ENST00000589923.1:n.273C>G
NM_002087.3:c.1015C>G NP_002078.1:p.Pro339Ala
XM_005257253.1:c.1015C>G XP_005257310.1:p.Pro339Ala
XM_024450730.1:c.1015C>G XP_024306498.1:p.Pro339Ala
NM_002087.4:c.1015C>G MANE Select NP_002078.1:p.Pro339Ala