Canonical Allele Identifier: CA5184269

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110767960C>T , CM000671.2:g.110767960C>T	GRCh38
NC_000009.11:g.113530240C>T , CM000671.1:g.113530240C>T	GRCh37
NC_000009.10:g.112570061C>T	NCBI36
NG_016016.1:g.104190C>T
NG_016016.2:g.104170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1061C>T MANE Select	NP_005583.1:p.Thr354Met
ENST00000374448.9:c.1061C>T MANE Select	ENSP00000363571.4:p.Thr354Met
NM_001166280.1:c.950+5752C>T	NP_001159752.1:n.950+5752C>T
NM_001166280.2:c.950+5752C>T	NP_001159752.1:n.950+5752C>T
NM_001166281.1:c.920+5752C>T	NP_001159753.1:n.920+5752C>T
NM_001166281.2:c.920+5752C>T	NP_001159753.1:n.920+5752C>T
NM_001369398.1:c.-176C>T	NP_001356327.1:n.-176C>T
NM_005592.3:c.1061C>T	NP_005583.1:p.Thr354Met
ENST00000189978.10:c.950+5752C>T	ENSP00000189978.6:n.950+5752C>T
ENST00000374440.7:c.944-7821C>T	ENSP00000363563.4:n.944-7821C>T
ENST00000374448.8:c.1061C>T	ENSP00000363571.4:p.Thr354Met
ENST00000416899.7:c.1061C>T	ENSP00000393608.3:p.Thr354Met
ENST00000634612.1:n.483C>T
XM_005251994.2:c.1091C>T	XP_005252051.1:p.Thr364Met
XM_005251994.3:c.1091C>T	XP_005252051.1:p.Thr364Met
XM_005251995.2:c.1091C>T	XP_005252052.1:p.Thr364Met
XM_005251995.3:c.1091C>T	XP_005252052.1:p.Thr364Met
XM_005251996.2:c.1061C>T	XP_005252053.1:p.Thr354Met
XM_005251996.3:c.1061C>T	XP_005252053.1:p.Thr354Met
XM_011518707.1:c.1121C>T	XP_011517009.1:p.Thr374Met
XM_011518708.1:c.-52-7828C>T	XP_011517010.1:n.-52-7828C>T
XM_011518708.2:c.-52-7828C>T	XP_011517010.1:n.-52-7828C>T
XM_017014734.1:c.950+5752C>T	XP_016870223.1:n.950+5752C>T
XR_001746892.1:n.289-3123G>A