Canonical Allele Identifier: CA5184278

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110768027C>A , CM000671.2:g.110768027C>A	GRCh38
NC_000009.11:g.113530307C>A , CM000671.1:g.113530307C>A	GRCh37
NC_000009.10:g.112570128C>A	NCBI36
NG_016016.1:g.104257C>A
NG_016016.2:g.104237C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1128C>A MANE Select	NP_005583.1:p.Asn376Lys
ENST00000374448.9:c.1128C>A MANE Select	ENSP00000363571.4:p.Asn376Lys
NM_001166280.1:c.950+5819C>A	NP_001159752.1:n.950+5819C>A
NM_001166280.2:c.950+5819C>A	NP_001159752.1:n.950+5819C>A
NM_001166281.1:c.920+5819C>A	NP_001159753.1:n.920+5819C>A
NM_001166281.2:c.920+5819C>A	NP_001159753.1:n.920+5819C>A
NM_001369398.1:c.-109C>A	NP_001356327.1:n.-109C>A
NM_005592.3:c.1128C>A	NP_005583.1:p.Asn376Lys
ENST00000189978.10:c.950+5819C>A	ENSP00000189978.6:n.950+5819C>A
ENST00000374440.7:c.944-7754C>A	ENSP00000363563.4:n.944-7754C>A
ENST00000374448.8:c.1128C>A	ENSP00000363571.4:p.Asn376Lys
ENST00000416899.7:c.1128C>A	ENSP00000393608.3:p.Asn376Lys
XM_005251994.2:c.1158C>A	XP_005252051.1:p.Asn386Lys
XM_005251994.3:c.1158C>A	XP_005252051.1:p.Asn386Lys
XM_005251995.2:c.1158C>A	XP_005252052.1:p.Asn386Lys
XM_005251995.3:c.1158C>A	XP_005252052.1:p.Asn386Lys
XM_005251996.2:c.1128C>A	XP_005252053.1:p.Asn376Lys
XM_005251996.3:c.1128C>A	XP_005252053.1:p.Asn376Lys
XM_011518707.1:c.1188C>A	XP_011517009.1:p.Asn396Lys
XM_011518708.1:c.-52-7761C>A	XP_011517010.1:n.-52-7761C>A
XM_011518708.2:c.-52-7761C>A	XP_011517010.1:n.-52-7761C>A
XM_017014734.1:c.950+5819C>A	XP_016870223.1:n.950+5819C>A
XR_001746892.1:n.289-3190G>T