Canonical Allele Identifier: CA413102742
Community Standard Title: NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)
Gene: SHROOM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50607601C>G , CM000685.2:g.50607601C>G GRCh38
NC_000023.10:g.50350601C>G , CM000685.1:g.50350601C>G GRCh37
NC_000023.9:g.50367341C>G NCBI36
NG_011882.1:g.211444G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020717.5:c.3541G>C MANE Select NP_065768.2:p.Glu1181Gln
ENST00000376020.9:c.3541G>C MANE Select ENSP00000365188.2:p.Glu1181Gln
NM_020717.3:c.3541G>C NP_065768.2:p.Glu1181Gln
NR_027121.1:n.3567G>C
NR_027121.3:n.3717G>C
NR_172068.1:n.3582G>C
NR_172069.1:n.3637G>C
NR_172070.1:n.3502G>C
ENST00000289292.11:c.3541G>C ENSP00000289292.7:p.Glu1181Gln
ENST00000376020.6:c.3541G>C ENSP00000365188.2:p.Glu1181Gln
ENST00000376020.8:c.3541G>C ENSP00000365188.2:p.Glu1181Gln
ENST00000460112.3:c.3193G>C ENSP00000421450.1:p.Glu1065Gln
XM_006724590.2:c.3193G>C XP_006724653.1:p.Glu1065Gln
XM_006724591.2:c.3067G>C XP_006724654.1:p.Glu1023Gln
XM_011530800.1:c.3406G>C XP_011529102.1:p.Glu1136Gln
XM_011530801.1:c.3541G>C XP_011529103.1:p.Glu1181Gln
XM_017029682.2:c.3655G>C XP_016885171.1:p.Glu1219Gln
XM_017029683.1:c.3520G>C XP_016885172.1:p.Glu1174Gln
XM_017029684.1:c.3307G>C XP_016885173.1:p.Glu1103Gln
XM_017029685.2:c.3655G>C XP_016885174.1:p.Glu1219Gln
XM_017029686.1:c.3181G>C XP_016885175.1:p.Glu1061Gln
XR_001755716.2:n.3786G>C
XR_001755717.2:n.3786G>C
XR_001755718.2:n.3786G>C
XR_938367.1:n.3659G>C
XR_938368.1:n.3659G>C