Canonical Allele Identifier: CA399765449

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42429024A>C (hg19) ; chr17:g.44351656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351656A>C , CM000679.2:g.44351656A>C	GRCh38
NC_000017.10:g.42429024A>C , CM000679.1:g.42429024A>C	GRCh37
NC_000017.9:g.39784550A>C	NCBI36
NG_007886.1:g.11534A>C , LRG_661:g.11534A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1040A>C MANE Select	ENSP00000053867.2:p.Lys347Thr
ENST00000639447.1:c.1040A>C	ENSP00000492014.1:p.Lys347Thr
ENST00000053867.7:c.1040A>C	ENSP00000053867.2:p.Lys347Thr
ENST00000586443.1:c.481A>C
ENST00000589265.5:c.569A>C	ENSP00000467616.1:p.Lys190Thr
ENST00000589923.1:n.298A>C
NM_002087.3:c.1040A>C	NP_002078.1:p.Lys347Thr
XM_005257253.1:c.1040A>C	XP_005257310.1:p.Lys347Thr
XM_024450730.1:c.1040A>C	XP_024306498.1:p.Lys347Thr
NM_002087.4:c.1040A>C MANE Select	NP_002078.1:p.Lys347Thr