Canonical Allele Identifier: CA374466967

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110762204T>C , CM000671.2:g.110762204T>C	GRCh38
NC_000009.11:g.113524484T>C , CM000671.1:g.113524484T>C	GRCh37
NC_000009.10:g.112564305T>C	NCBI36
NG_016016.1:g.98434T>C
NG_016016.2:g.98414T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.916T>C MANE Select	NP_005583.1:p.Trp306Arg
ENST00000374448.9:c.916T>C MANE Select	ENSP00000363571.4:p.Trp306Arg
NM_001166280.1:c.946T>C	NP_001159752.1:p.Trp316Arg
NM_001166280.2:c.946T>C	NP_001159752.1:p.Trp316Arg
NM_001166281.1:c.916T>C	NP_001159753.1:p.Trp306Arg
NM_001166281.2:c.916T>C	NP_001159753.1:p.Trp306Arg
NM_001369398.1:c.-321T>C	NP_001356327.1:n.-321T>C
NM_005592.3:c.916T>C	NP_005583.1:p.Trp306Arg
ENST00000189978.10:c.946T>C	ENSP00000189978.6:p.Trp316Arg
ENST00000374440.7:c.944-13577T>C	ENSP00000363563.4:n.944-13577T>C
ENST00000374448.8:c.916T>C	ENSP00000363571.4:p.Trp306Arg
ENST00000416899.7:c.916T>C	ENSP00000393608.3:p.Trp306Arg
ENST00000634612.1:n.338T>C
XM_005251994.2:c.946T>C	XP_005252051.1:p.Trp316Arg
XM_005251994.3:c.946T>C	XP_005252051.1:p.Trp316Arg
XM_005251995.2:c.946T>C	XP_005252052.1:p.Trp316Arg
XM_005251995.3:c.946T>C	XP_005252052.1:p.Trp316Arg
XM_005251996.2:c.916T>C	XP_005252053.1:p.Trp306Arg
XM_005251996.3:c.916T>C	XP_005252053.1:p.Trp306Arg
XM_011518707.1:c.976T>C	XP_011517009.1:p.Trp326Arg
XM_011518708.1:c.-52-13584T>C	XP_011517010.1:n.-52-13584T>C
XM_011518708.2:c.-52-13584T>C	XP_011517010.1:n.-52-13584T>C
XM_017014734.1:c.946T>C	XP_016870223.1:p.Trp316Arg