Canonical Allele Identifier: CA225238
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 16007
ClinVar RCV Id: RCV000017380 RCV000084439
dbSNP Id: rs63750077
MyVariant Identifiers: chr17:g.42427619C>T (hg19) chr17:g.44350251C>T (hg38)
PubMed: PMID:12476321 PMID:16862115 PMID:16862116
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44350251C>T , CM000679.2:g.44350251C>T GRCh38
NC_000017.10:g.42427619C>T , CM000679.1:g.42427619C>T GRCh37
NC_000017.9:g.39783145C>T NCBI36
NG_007886.1:g.10129C>T , LRG_661:g.10129C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000053867.8:c.373C>T MANE Select ENSP00000053867.2:p.Gln125Ter
ENST00000639447.1:c.373C>T ENSP00000492014.1:p.Gln125Ter
ENST00000053867.7:c.373C>T ENSP00000053867.2:p.Gln125Ter
ENST00000586782.5:c.373C>T ENSP00000468318.1:p.Gln125Ter
ENST00000587387.5:c.415C>T ENSP00000467431.1:p.Gln139Ter
ENST00000587518.5:c.373C>T ENSP00000465518.1:p.Gln125Ter
ENST00000588143.5:c.373C>T ENSP00000465375.1:p.Gln125Ter
ENST00000588237.5:c.265-191C>T ENSP00000466611.1:n.265-191C>T
ENST00000589265.5:c.373C>T ENSP00000467616.1:p.Gln125Ter
ENST00000591740.5:c.373C>T ENSP00000467022.1:p.Gln125Ter
ENST00000592783.5:c.373C>T ENSP00000467870.1:p.Gln125Ter
ENST00000593167.5:c.373C>T ENSP00000466405.1:p.Gln125Ter
NM_002087.3:c.373C>T NP_002078.1:p.Gln125Ter
XM_005257253.1:c.373C>T XP_005257310.1:p.Gln125Ter
XM_024450730.1:c.373C>T XP_024306498.1:p.Gln125Ter
NM_002087.4:c.373C>T MANE Select NP_002078.1:p.Gln125Ter
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