Canonical Allele Identifier: CA516568613

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378542A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635542A>G , CM000685.2:g.50635542A>G	GRCh38
NC_000023.10:g.50378542A>G , CM000685.1:g.50378542A>G	GRCh37
NC_000023.9:g.50395282A>G	NCBI36
NG_011882.1:g.183503T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376020.9:c.531T>C MANE Select	ENSP00000365188.2:p.Ile177=
ENST00000376020.8:c.531T>C	ENSP00000365188.2:p.Ile177=
ENST00000289292.11:c.531T>C	ENSP00000289292.7:p.Ile177=
ENST00000376020.6:c.531T>C	ENSP00000365188.2:p.Ile177=
ENST00000460112.3:c.183T>C	ENSP00000421450.1:p.Ile61=
NM_020717.3:c.531T>C	NP_065768.2:p.Ile177=
NR_027121.1:n.557T>C
XM_006724590.2:c.183T>C	XP_006724653.1:p.Ile61=
XM_006724591.2:c.57T>C	XP_006724654.1:p.Ile19=
XM_011530800.1:c.396T>C	XP_011529102.1:p.Ile132=
XM_011530801.1:c.531T>C	XP_011529103.1:p.Ile177=
XR_938367.1:n.649T>C
XR_938368.1:n.649T>C
XM_017029682.2:c.531T>C	XP_016885171.1:p.Ile177=
XM_017029683.1:c.396T>C	XP_016885172.1:p.Ile132=
XM_017029684.1:c.183T>C	XP_016885173.1:p.Ile61=
XM_017029685.2:c.531T>C	XP_016885174.1:p.Ile177=
XM_017029686.1:c.57T>C	XP_016885175.1:p.Ile19=
XM_017029687.2:c.531T>C	XP_016885176.1:p.Ile177=
XR_001755716.2:n.662T>C
XR_001755717.2:n.662T>C
XR_001755718.2:n.662T>C
NM_020717.5:c.531T>C MANE Select	NP_065768.2:p.Ile177=
NR_027121.3:n.707T>C
NR_172068.1:n.572T>C
NR_172069.1:n.627T>C
NR_172070.1:n.492T>C