Canonical Allele Identifier: CA374472832

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110775821C>A , CM000671.2:g.110775821C>A	GRCh38
NC_000009.11:g.113538101C>A , CM000671.1:g.113538101C>A	GRCh37
NC_000009.10:g.112577922C>A	NCBI36
NG_016016.1:g.112051C>A
NG_016016.2:g.112031C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1218C>A MANE Select	NP_005583.1:p.Cys406Ter
ENST00000374448.9:c.1218C>A MANE Select	ENSP00000363571.4:p.Cys406Ter
NM_001166280.1:c.984C>A	NP_001159752.1:p.Cys328Ter
NM_001166280.2:c.984C>A	NP_001159752.1:p.Cys328Ter
NM_001166281.1:c.954C>A	NP_001159753.1:p.Cys318Ter
NM_001166281.2:c.954C>A	NP_001159753.1:p.Cys318Ter
NM_001369398.1:c.-19C>A	NP_001356327.1:n.-19C>A
NM_005592.3:c.1218C>A	NP_005583.1:p.Cys406Ter
ENST00000189978.10:c.984C>A	ENSP00000189978.6:p.Cys328Ter
ENST00000374438.1:n.475C>A
ENST00000374440.7:c.984C>A	ENSP00000363563.4:p.Cys328Ter
ENST00000374448.8:c.1218C>A	ENSP00000363571.4:p.Cys406Ter
ENST00000416899.7:c.1218C>A	ENSP00000393608.3:p.Cys406Ter
XM_005251994.2:c.1248C>A	XP_005252051.1:p.Cys416Ter
XM_005251994.3:c.1248C>A	XP_005252051.1:p.Cys416Ter
XM_005251995.2:c.1248C>A	XP_005252052.1:p.Cys416Ter
XM_005251995.3:c.1248C>A	XP_005252052.1:p.Cys416Ter
XM_005251996.2:c.1218C>A	XP_005252053.1:p.Cys406Ter
XM_005251996.3:c.1218C>A	XP_005252053.1:p.Cys406Ter
XM_011518707.1:c.1278C>A	XP_011517009.1:p.Cys426Ter
XM_011518708.1:c.-19C>A	XP_011517010.1:n.-19C>A
XM_011518708.2:c.-19C>A	XP_011517010.1:n.-19C>A
XM_017014734.1:c.984C>A	XP_016870223.1:p.Cys328Ter
XR_001746892.1:n.288+8992G>T