Canonical Allele Identifier: CA5184437

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785675A>T , CM000671.2:g.110785675A>T	GRCh38
NC_000009.11:g.113547955A>T , CM000671.1:g.113547955A>T	GRCh37
NC_000009.10:g.112587776A>T	NCBI36
NG_016016.1:g.121905A>T
NG_016016.2:g.121885A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1735A>T MANE Select	NP_005583.1:p.Arg579Ter
ENST00000374448.9:c.1735A>T MANE Select	ENSP00000363571.4:p.Arg579Ter
NM_001166280.1:c.1477A>T	NP_001159752.1:p.Arg493Ter
NM_001166280.2:c.1477A>T	NP_001159752.1:p.Arg493Ter
NM_001166281.1:c.1447A>T	NP_001159753.1:p.Arg483Ter
NM_001166281.2:c.1447A>T	NP_001159753.1:p.Arg483Ter
NM_001369398.1:c.475A>T	NP_001356327.1:p.Arg159Ter
NM_005592.3:c.1735A>T	NP_005583.1:p.Arg579Ter
ENST00000189978.10:c.1477A>T	ENSP00000189978.6:p.Arg493Ter
ENST00000374438.1:n.766A>T
ENST00000374440.7:c.1477A>T	ENSP00000363563.4:p.Arg493Ter
ENST00000374448.8:c.1735A>T	ENSP00000363571.4:p.Arg579Ter
ENST00000416899.7:c.1711A>T	ENSP00000393608.3:p.Arg571Ter
XM_005251994.2:c.1765A>T	XP_005252051.1:p.Arg589Ter
XM_005251994.3:c.1765A>T	XP_005252051.1:p.Arg589Ter
XM_005251995.2:c.1741A>T	XP_005252052.1:p.Arg581Ter
XM_005251995.3:c.1741A>T	XP_005252052.1:p.Arg581Ter
XM_005251996.2:c.1711A>T	XP_005252053.1:p.Arg571Ter
XM_005251996.3:c.1711A>T	XP_005252053.1:p.Arg571Ter
XM_011518707.1:c.1795A>T	XP_011517009.1:p.Arg599Ter
XM_011518708.1:c.499A>T	XP_011517010.1:p.Arg167Ter
XM_011518708.2:c.499A>T	XP_011517010.1:p.Arg167Ter
XM_017014734.1:c.1501A>T	XP_016870223.1:p.Arg501Ter
XR_001746892.1:n.48T>A