Canonical Allele Identifier: CA225308

Gene: GRN

Linked Data

• ClinVar Variation Id: 98168
• ClinVar RCV Id: RCV000084471
• dbSNP Id: rs63751406
• gnomAD v4: 17-44351625-C-T
• MyVariant Identifiers: chr17:g.42428993C>T (hg19) ; chr17:g.44351625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351625C>T , CM000679.2:g.44351625C>T	GRCh38
NC_000017.10:g.42428993C>T , CM000679.1:g.42428993C>T	GRCh37
NC_000017.9:g.39784519C>T	NCBI36
NG_007886.1:g.11503C>T , LRG_661:g.11503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1009C>T MANE Select	ENSP00000053867.2:p.Gln337Ter
ENST00000639447.1:c.1009C>T	ENSP00000492014.1:p.Gln337Ter
ENST00000053867.7:c.1009C>T	ENSP00000053867.2:p.Gln337Ter
ENST00000586443.1:c.450C>T
ENST00000589265.5:c.538C>T	ENSP00000467616.1:p.Gln180Ter
ENST00000589923.1:n.267C>T
NM_002087.3:c.1009C>T	NP_002078.1:p.Gln337Ter
XM_005257253.1:c.1009C>T	XP_005257310.1:p.Gln337Ter
XM_024450730.1:c.1009C>T	XP_024306498.1:p.Gln337Ter
NM_002087.4:c.1009C>T MANE Select	NP_002078.1:p.Gln337Ter