Canonical Allele Identifier: CA5184045

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110697387A>G , CM000671.2:g.110697387A>G	GRCh38
NC_000009.11:g.113459667A>G , CM000671.1:g.113459667A>G	GRCh37
NC_000009.10:g.112499488A>G	NCBI36
NG_016016.1:g.33617A>G
NG_016016.2:g.33597A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.549A>G MANE Select	NP_005583.1:p.Glu183=
ENST00000374448.9:c.549A>G MANE Select	ENSP00000363571.4:p.Glu183=
NM_001166280.1:c.549A>G	NP_001159752.1:p.Glu183=
NM_001166280.2:c.549A>G	NP_001159752.1:p.Glu183=
NM_001166281.1:c.549A>G	NP_001159753.1:p.Glu183=
NM_001166281.2:c.549A>G	NP_001159753.1:p.Glu183=
NM_005592.3:c.549A>G	NP_005583.1:p.Glu183=
ENST00000189978.10:c.549A>G	ENSP00000189978.6:p.Glu183=
ENST00000374439.1:c.243A>G	ENSP00000363562.2:p.Glu81=
ENST00000374440.7:c.549A>G	ENSP00000363563.4:p.Glu183=
ENST00000374448.8:c.549A>G	ENSP00000363571.4:p.Glu183=
ENST00000416899.7:c.549A>G	ENSP00000393608.3:p.Glu183=
XM_005251994.2:c.549A>G	XP_005252051.1:p.Glu183=
XM_005251994.3:c.549A>G	XP_005252051.1:p.Glu183=
XM_005251995.2:c.549A>G	XP_005252052.1:p.Glu183=
XM_005251995.3:c.549A>G	XP_005252052.1:p.Glu183=
XM_005251996.2:c.549A>G	XP_005252053.1:p.Glu183=
XM_005251996.3:c.549A>G	XP_005252053.1:p.Glu183=
XM_011518707.1:c.549A>G	XP_011517009.1:p.Glu183=
XM_017014734.1:c.549A>G	XP_016870223.1:p.Glu183=