Canonical Allele Identifier: CA500243480

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42428518G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351150G>C , CM000679.2:g.44351150G>C	GRCh38
NC_000017.10:g.42428518G>C , CM000679.1:g.42428518G>C	GRCh37
NC_000017.9:g.39784044G>C	NCBI36
NG_007886.1:g.11028G>C , LRG_661:g.11028G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000053867.8:c.822G>C MANE Select	ENSP00000053867.2:p.Leu274=
ENST00000639447.1:c.822G>C	ENSP00000492014.1:p.Leu274=
ENST00000053867.7:c.822G>C	ENSP00000053867.2:p.Leu274=
ENST00000585348.1:n.240G>C
ENST00000586443.1:c.263G>C
ENST00000586782.5:c.*232G>C	ENSP00000468318.1:n.*232G>C
ENST00000589265.5:c.463-400G>C	ENSP00000467616.1:n.463-400G>C
ENST00000589923.1:n.93+50G>C
ENST00000590984.1:n.412G>C
NM_002087.3:c.822G>C	NP_002078.1:p.Leu274=
XM_005257253.1:c.822G>C	XP_005257310.1:p.Leu274=
XM_024450730.1:c.822G>C	XP_024306498.1:p.Leu274=
NM_002087.4:c.822G>C MANE Select	NP_002078.1:p.Leu274=