Canonical Allele Identifier: CA500622053
Gene: GRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42429040C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351672C>G , CM000679.2:g.44351672C>G GRCh38
NC_000017.10:g.42429040C>G , CM000679.1:g.42429040C>G GRCh37
NC_000017.9:g.39784566C>G NCBI36
NG_007886.1:g.11550C>G , LRG_661:g.11550C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1056C>G MANE Select ENSP00000053867.2:p.Leu352=
ENST00000639447.1:c.1056C>G ENSP00000492014.1:p.Leu352=
ENST00000053867.7:c.1056C>G ENSP00000053867.2:p.Leu352=
ENST00000586443.1:c.497C>G
ENST00000589265.5:c.585C>G ENSP00000467616.1:p.Leu195=
ENST00000589923.1:n.314C>G
NM_002087.3:c.1056C>G NP_002078.1:p.Leu352=
XM_005257253.1:c.1056C>G XP_005257310.1:p.Leu352=
XM_024450730.1:c.1056C>G XP_024306498.1:p.Leu352=
NM_002087.4:c.1056C>G MANE Select NP_002078.1:p.Leu352=