Canonical Allele Identifier: CA413102293

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50607499A>G , CM000685.2:g.50607499A>G	GRCh38
NC_000023.10:g.50350499A>G , CM000685.1:g.50350499A>G	GRCh37
NC_000023.9:g.50367239A>G	NCBI36
NG_011882.1:g.211546T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.3643T>C MANE Select	ENSP00000365188.2:p.Phe1215Leu
ENST00000376020.8:c.3643T>C	ENSP00000365188.2:p.Phe1215Leu
ENST00000289292.11:c.3643T>C	ENSP00000289292.7:p.Phe1215Leu
ENST00000376020.6:c.3643T>C	ENSP00000365188.2:p.Phe1215Leu
ENST00000460112.3:c.3295T>C	ENSP00000421450.1:p.Phe1099Leu
NM_020717.3:c.3643T>C	NP_065768.2:p.Phe1215Leu
NR_027121.1:n.3669T>C
XM_006724590.2:c.3295T>C	XP_006724653.1:p.Phe1099Leu
XM_006724591.2:c.3169T>C	XP_006724654.1:p.Phe1057Leu
XM_011530800.1:c.3508T>C	XP_011529102.1:p.Phe1170Leu
XM_011530801.1:c.3643T>C	XP_011529103.1:p.Phe1215Leu
XR_938367.1:n.3761T>C
XR_938368.1:n.3761T>C
XM_017029682.2:c.3757T>C	XP_016885171.1:p.Phe1253Leu
XM_017029683.1:c.3622T>C	XP_016885172.1:p.Phe1208Leu
XM_017029684.1:c.3409T>C	XP_016885173.1:p.Phe1137Leu
XM_017029685.2:c.3757T>C	XP_016885174.1:p.Phe1253Leu
XM_017029686.1:c.3283T>C	XP_016885175.1:p.Phe1095Leu
XR_001755716.2:n.3888T>C
XR_001755717.2:n.3888T>C
XR_001755718.2:n.3888T>C
NM_020717.5:c.3643T>C MANE Select	NP_065768.2:p.Phe1215Leu
NR_027121.3:n.3819T>C
NR_172068.1:n.3684T>C
NR_172069.1:n.3739T>C
NR_172070.1:n.3604T>C