Canonical Allele Identifier: CA413121471

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50634613A>C , CM000685.2:g.50634613A>C	GRCh38
NC_000023.10:g.50377613A>C , CM000685.1:g.50377613A>C	GRCh37
NC_000023.9:g.50394353A>C	NCBI36
NG_011882.1:g.184432T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020717.5:c.1460T>G MANE Select	NP_065768.2:p.Leu487Trp
ENST00000376020.9:c.1460T>G MANE Select	ENSP00000365188.2:p.Leu487Trp
NM_020717.3:c.1460T>G	NP_065768.2:p.Leu487Trp
NR_027121.1:n.1486T>G
NR_027121.3:n.1636T>G
NR_172068.1:n.1501T>G
NR_172069.1:n.1556T>G
NR_172070.1:n.1421T>G
ENST00000289292.11:c.1460T>G	ENSP00000289292.7:p.Leu487Trp
ENST00000376020.6:c.1460T>G	ENSP00000365188.2:p.Leu487Trp
ENST00000376020.8:c.1460T>G	ENSP00000365188.2:p.Leu487Trp
ENST00000460112.3:c.1112T>G	ENSP00000421450.1:p.Leu371Trp
XM_006724590.2:c.1112T>G	XP_006724653.1:p.Leu371Trp
XM_006724591.2:c.986T>G	XP_006724654.1:p.Leu329Trp
XM_011530800.1:c.1325T>G	XP_011529102.1:p.Leu442Trp
XM_011530801.1:c.1460T>G	XP_011529103.1:p.Leu487Trp
XM_017029682.2:c.1460T>G	XP_016885171.1:p.Leu487Trp
XM_017029683.1:c.1325T>G	XP_016885172.1:p.Leu442Trp
XM_017029684.1:c.1112T>G	XP_016885173.1:p.Leu371Trp
XM_017029685.2:c.1460T>G	XP_016885174.1:p.Leu487Trp
XM_017029686.1:c.986T>G	XP_016885175.1:p.Leu329Trp
XM_017029687.2:c.1460T>G	XP_016885176.1:p.Leu487Trp
XR_001755716.2:n.1591T>G
XR_001755717.2:n.1591T>G
XR_001755718.2:n.1591T>G
XR_938367.1:n.1578T>G
XR_938368.1:n.1578T>G