Canonical Allele Identifier: CA399764557

Gene: GRN

Linked Data

• gnomAD v4: 17-44351050-C-T
• COSMIC: COSM5386473
• MyVariant Identifiers: chr17:g.42428418C>T (hg19) ; chr17:g.44351050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351050C>T , CM000679.2:g.44351050C>T	GRCh38
NC_000017.10:g.42428418C>T , CM000679.1:g.42428418C>T	GRCh37
NC_000017.9:g.39783944C>T	NCBI36
NG_007886.1:g.10928C>T , LRG_661:g.10928C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000053867.8:c.722C>T MANE Select	ENSP00000053867.2:p.Ser241Phe
ENST00000639447.1:c.722C>T	ENSP00000492014.1:p.Ser241Phe
ENST00000053867.7:c.722C>T	ENSP00000053867.2:p.Ser241Phe
ENST00000585348.1:n.140C>T
ENST00000586443.1:c.163C>T
ENST00000586782.5:c.*132C>T	ENSP00000468318.1:n.*132C>T
ENST00000589265.5:c.463-500C>T	ENSP00000467616.1:n.463-500C>T
ENST00000589923.1:n.43C>T
ENST00000590984.1:n.312C>T
NM_002087.3:c.722C>T	NP_002078.1:p.Ser241Phe
XM_005257253.1:c.722C>T	XP_005257310.1:p.Ser241Phe
XM_024450730.1:c.722C>T	XP_024306498.1:p.Ser241Phe
NM_002087.4:c.722C>T MANE Select	NP_002078.1:p.Ser241Phe