Canonical Allele Identifier: CA399765371

Gene: GRN

Linked Data

• gnomAD v4: 17-44351644-C-T
• MyVariant Identifiers: chr17:g.42429012C>T (hg19) ; chr17:g.44351644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351644C>T , CM000679.2:g.44351644C>T	GRCh38
NC_000017.10:g.42429012C>T , CM000679.1:g.42429012C>T	GRCh37
NC_000017.9:g.39784538C>T	NCBI36
NG_007886.1:g.11522C>T , LRG_661:g.11522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1028C>T MANE Select	ENSP00000053867.2:p.Pro343Leu
ENST00000639447.1:c.1028C>T	ENSP00000492014.1:p.Pro343Leu
ENST00000053867.7:c.1028C>T	ENSP00000053867.2:p.Pro343Leu
ENST00000586443.1:c.469C>T
ENST00000589265.5:c.557C>T	ENSP00000467616.1:p.Pro186Leu
ENST00000589923.1:n.286C>T
NM_002087.3:c.1028C>T	NP_002078.1:p.Pro343Leu
XM_005257253.1:c.1028C>T	XP_005257310.1:p.Pro343Leu
XM_024450730.1:c.1028C>T	XP_024306498.1:p.Pro343Leu
NM_002087.4:c.1028C>T MANE Select	NP_002078.1:p.Pro343Leu