Canonical Allele Identifier: CA399765234

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42428984A>C (hg19) ; chr17:g.44351616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351616A>C , CM000679.2:g.44351616A>C	GRCh38
NC_000017.10:g.42428984A>C , CM000679.1:g.42428984A>C	GRCh37
NC_000017.9:g.39784510A>C	NCBI36
NG_007886.1:g.11494A>C , LRG_661:g.11494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1000A>C MANE Select	ENSP00000053867.2:p.Thr334Pro
ENST00000639447.1:c.1000A>C	ENSP00000492014.1:p.Thr334Pro
ENST00000053867.7:c.1000A>C	ENSP00000053867.2:p.Thr334Pro
ENST00000586443.1:c.441A>C
ENST00000589265.5:c.529A>C	ENSP00000467616.1:p.Thr177Pro
ENST00000589923.1:n.258A>C
NM_002087.3:c.1000A>C	NP_002078.1:p.Thr334Pro
XM_005257253.1:c.1000A>C	XP_005257310.1:p.Thr334Pro
XM_024450730.1:c.1000A>C	XP_024306498.1:p.Thr334Pro
NM_002087.4:c.1000A>C MANE Select	NP_002078.1:p.Thr334Pro