Canonical Allele Identifier: CA466686042

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110784876C>G , CM000671.2:g.110784876C>G	GRCh38
NC_000009.11:g.113547156C>G , CM000671.1:g.113547156C>G	GRCh37
NC_000009.10:g.112586977C>G	NCBI36
NG_016016.1:g.121106C>G
NG_016016.2:g.121086C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1446C>G MANE Select	NP_005583.1:p.Ser482=
ENST00000374448.9:c.1446C>G MANE Select	ENSP00000363571.4:p.Ser482=
NM_001166280.1:c.1188C>G	NP_001159752.1:p.Ser396=
NM_001166280.2:c.1188C>G	NP_001159752.1:p.Ser396=
NM_001166281.1:c.1158C>G	NP_001159753.1:p.Ser386=
NM_001166281.2:c.1158C>G	NP_001159753.1:p.Ser386=
NM_001369398.1:c.186C>G	NP_001356327.1:p.Ser62=
NM_005592.3:c.1446C>G	NP_005583.1:p.Ser482=
ENST00000189978.10:c.1188C>G	ENSP00000189978.6:p.Ser396=
ENST00000374438.1:n.618-651C>G
ENST00000374440.7:c.1188C>G	ENSP00000363563.4:p.Ser396=
ENST00000374448.8:c.1446C>G	ENSP00000363571.4:p.Ser482=
ENST00000416899.7:c.1422C>G	ENSP00000393608.3:p.Ser474=
XM_005251994.2:c.1476C>G	XP_005252051.1:p.Ser492=
XM_005251994.3:c.1476C>G	XP_005252051.1:p.Ser492=
XM_005251995.2:c.1452C>G	XP_005252052.1:p.Ser484=
XM_005251995.3:c.1452C>G	XP_005252052.1:p.Ser484=
XM_005251996.2:c.1422C>G	XP_005252053.1:p.Ser474=
XM_005251996.3:c.1422C>G	XP_005252053.1:p.Ser474=
XM_011518707.1:c.1506C>G	XP_011517009.1:p.Ser502=
XM_011518708.1:c.210C>G	XP_011517010.1:p.Ser70=
XM_011518708.2:c.210C>G	XP_011517010.1:p.Ser70=
XM_017014734.1:c.1212C>G	XP_016870223.1:p.Ser404=
XR_001746892.1:n.225G>C