Canonical Allele Identifier: CA413123736

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635133C>T , CM000685.2:g.50635133C>T	GRCh38
NC_000023.10:g.50378133C>T , CM000685.1:g.50378133C>T	GRCh37
NC_000023.9:g.50394873C>T	NCBI36
NG_011882.1:g.183912G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020717.5:c.940G>A MANE Select	NP_065768.2:p.Glu314Lys
ENST00000376020.9:c.940G>A MANE Select	ENSP00000365188.2:p.Glu314Lys
NM_020717.3:c.940G>A	NP_065768.2:p.Glu314Lys
NR_027121.1:n.966G>A
NR_027121.3:n.1116G>A
NR_172068.1:n.981G>A
NR_172069.1:n.1036G>A
NR_172070.1:n.901G>A
ENST00000289292.11:c.940G>A	ENSP00000289292.7:p.Glu314Lys
ENST00000376020.6:c.940G>A	ENSP00000365188.2:p.Glu314Lys
ENST00000376020.8:c.940G>A	ENSP00000365188.2:p.Glu314Lys
ENST00000460112.3:c.592G>A	ENSP00000421450.1:p.Glu198Lys
XM_006724590.2:c.592G>A	XP_006724653.1:p.Glu198Lys
XM_006724591.2:c.466G>A	XP_006724654.1:p.Glu156Lys
XM_011530800.1:c.805G>A	XP_011529102.1:p.Glu269Lys
XM_011530801.1:c.940G>A	XP_011529103.1:p.Glu314Lys
XM_017029682.2:c.940G>A	XP_016885171.1:p.Glu314Lys
XM_017029683.1:c.805G>A	XP_016885172.1:p.Glu269Lys
XM_017029684.1:c.592G>A	XP_016885173.1:p.Glu198Lys
XM_017029685.2:c.940G>A	XP_016885174.1:p.Glu314Lys
XM_017029686.1:c.466G>A	XP_016885175.1:p.Glu156Lys
XM_017029687.2:c.940G>A	XP_016885176.1:p.Glu314Lys
XR_001755716.2:n.1071G>A
XR_001755717.2:n.1071G>A
XR_001755718.2:n.1071G>A
XR_938367.1:n.1058G>A
XR_938368.1:n.1058G>A