Canonical Allele Identifier: CA7456143
Community Standard Title: NM_013372.7(GREM1):c.307A>G (p.Ile103Val)
Gene: GREM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.32730997A>G , CM000677.2:g.32730997A>G GRCh38
NC_000015.9:g.33023198A>G , CM000677.1:g.33023198A>G GRCh37
NC_000015.8:g.30810490A>G NCBI36
NG_033791.1:g.17994A>G
NG_033791.2:g.17994A>G

Transcript Alleles

HGVS Amino-acid Change
NM_013372.7:c.307A>G MANE Select NP_037504.1:p.Ile103Val
ENST00000651154.1:c.307A>G MANE Select ENSP00000498748.1:p.Ile103Val
NM_001191322.1:c.97A>G NP_001178251.1:p.Ile33Val
NM_001191322.2:c.97A>G NP_001178251.1:p.Ile33Val
NM_001191323.1:c.184A>G NP_001178252.1:p.Ile62Val
NM_001191323.2:c.184A>G NP_001178252.1:p.Ile62Val
NM_001368719.1:c.307A>G NP_001355648.1:p.Ile103Val
NM_013372.6:c.307A>G NP_037504.1:p.Ile103Val
ENST00000560677.5:c.*57A>G ENSP00000453387.1:n.*57A>G
ENST00000560830.1:c.184A>G ENSP00000453141.1:p.Ile62Val
ENST00000622074.1:c.307A>G ENSP00000478319.1:p.Ile103Val
ENST00000652365.1:c.307A>G ENSP00000498763.1:p.Ile103Val
XM_005254301.1:c.475A>G XP_005254358.1:p.Ile159Val
XM_017022077.1:c.418A>G XP_016877566.1:p.Ile140Val