Canonical Allele Identifier: CA231516

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50598534A>G , CM000685.2:g.50598534A>G	GRCh38
NC_000023.10:g.50341534A>G , CM000685.1:g.50341534A>G	GRCh37
NC_000023.9:g.50358274A>G	NCBI36
NG_011882.1:g.220511T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020717.5:c.3944T>C MANE Select	NP_065768.2:p.Ile1315Thr
ENST00000376020.9:c.3944T>C MANE Select	ENSP00000365188.2:p.Ile1315Thr
NM_020717.3:c.3944T>C	NP_065768.2:p.Ile1315Thr
NR_027121.1:n.3970T>C
NR_027121.3:n.4120T>C
NR_172068.1:n.3985T>C
NR_172069.1:n.4040T>C
NR_172070.1:n.3905T>C
ENST00000289292.11:c.3944T>C	ENSP00000289292.7:p.Ile1315Thr
ENST00000376020.6:c.3944T>C	ENSP00000365188.2:p.Ile1315Thr
ENST00000376020.8:c.3944T>C	ENSP00000365188.2:p.Ile1315Thr
ENST00000460112.3:c.3596T>C	ENSP00000421450.1:p.Ile1199Thr
XM_006724590.2:c.3596T>C	XP_006724653.1:p.Ile1199Thr
XM_006724591.2:c.3470T>C	XP_006724654.1:p.Ile1157Thr
XM_011530800.1:c.3809T>C	XP_011529102.1:p.Ile1270Thr
XM_011530801.1:c.3945T>C	XP_011529103.1:p.Asp1315=
XM_017029682.2:c.4058T>C	XP_016885171.1:p.Ile1353Thr
XM_017029683.1:c.3923T>C	XP_016885172.1:p.Ile1308Thr
XM_017029684.1:c.3710T>C	XP_016885173.1:p.Ile1237Thr
XM_017029685.2:c.4059T>C	XP_016885174.1:p.Asp1353=
XM_017029686.1:c.3584T>C	XP_016885175.1:p.Ile1195Thr
XR_001755716.2:n.4189T>C
XR_001755717.2:n.4189T>C
XR_001755718.2:n.4189T>C
XR_938367.1:n.4062T>C
XR_938368.1:n.4062T>C