Canonical Allele Identifier: CA500622347
Gene: GRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42429559G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352191G>C , CM000679.2:g.44352191G>C GRCh38
NC_000017.10:g.42429559G>C , CM000679.1:g.42429559G>C GRCh37
NC_000017.9:g.39785085G>C NCBI36
NG_007886.1:g.12069G>C , LRG_661:g.12069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1356G>C MANE Select ENSP00000053867.2:p.Val452=
ENST00000639447.1:c.1137-338G>C ENSP00000492014.1:n.1137-338G>C
ENST00000053867.7:c.1356G>C ENSP00000053867.2:p.Val452=
ENST00000586443.1:c.797G>C
ENST00000589265.5:c.885G>C ENSP00000467616.1:p.Val295=
NM_002087.3:c.1356G>C NP_002078.1:p.Val452=
XM_005257253.1:c.1356G>C XP_005257310.1:p.Val452=
XM_024450730.1:c.1356G>C XP_024306498.1:p.Val452=
NM_002087.4:c.1356G>C MANE Select NP_002078.1:p.Val452=