Canonical Allele Identifier: CA413126537

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378550A>T (hg19) ; chrX:g.50635550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635550A>T , CM000685.2:g.50635550A>T	GRCh38
NC_000023.10:g.50378550A>T , CM000685.1:g.50378550A>T	GRCh37
NC_000023.9:g.50395290A>T	NCBI36
NG_011882.1:g.183495T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376020.9:c.523T>A MANE Select	ENSP00000365188.2:p.Leu175Met
ENST00000376020.8:c.523T>A	ENSP00000365188.2:p.Leu175Met
ENST00000289292.11:c.523T>A	ENSP00000289292.7:p.Leu175Met
ENST00000376020.6:c.523T>A	ENSP00000365188.2:p.Leu175Met
ENST00000460112.3:c.175T>A	ENSP00000421450.1:p.Leu59Met
NM_020717.3:c.523T>A	NP_065768.2:p.Leu175Met
NR_027121.1:n.549T>A
XM_006724590.2:c.175T>A	XP_006724653.1:p.Leu59Met
XM_006724591.2:c.49T>A	XP_006724654.1:p.Leu17Met
XM_011530800.1:c.388T>A	XP_011529102.1:p.Leu130Met
XM_011530801.1:c.523T>A	XP_011529103.1:p.Leu175Met
XR_938367.1:n.641T>A
XR_938368.1:n.641T>A
XM_017029682.2:c.523T>A	XP_016885171.1:p.Leu175Met
XM_017029683.1:c.388T>A	XP_016885172.1:p.Leu130Met
XM_017029684.1:c.175T>A	XP_016885173.1:p.Leu59Met
XM_017029685.2:c.523T>A	XP_016885174.1:p.Leu175Met
XM_017029686.1:c.49T>A	XP_016885175.1:p.Leu17Met
XM_017029687.2:c.523T>A	XP_016885176.1:p.Leu175Met
XR_001755716.2:n.654T>A
XR_001755717.2:n.654T>A
XR_001755718.2:n.654T>A
NM_020717.5:c.523T>A MANE Select	NP_065768.2:p.Leu175Met
NR_027121.3:n.699T>A
NR_172068.1:n.564T>A
NR_172069.1:n.619T>A
NR_172070.1:n.484T>A