Canonical Allele Identifier: CA5184439

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785684G>A , CM000671.2:g.110785684G>A	GRCh38
NC_000009.11:g.113547964G>A , CM000671.1:g.113547964G>A	GRCh37
NC_000009.10:g.112587785G>A	NCBI36
NG_016016.1:g.121914G>A
NG_016016.2:g.121894G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1744G>A MANE Select	NP_005583.1:p.Gly582Arg
ENST00000374448.9:c.1744G>A MANE Select	ENSP00000363571.4:p.Gly582Arg
NM_001166280.1:c.1486G>A	NP_001159752.1:p.Gly496Arg
NM_001166280.2:c.1486G>A	NP_001159752.1:p.Gly496Arg
NM_001166281.1:c.1456G>A	NP_001159753.1:p.Gly486Arg
NM_001166281.2:c.1456G>A	NP_001159753.1:p.Gly486Arg
NM_001369398.1:c.484G>A	NP_001356327.1:p.Gly162Arg
NM_005592.3:c.1744G>A	NP_005583.1:p.Gly582Arg
ENST00000189978.10:c.1486G>A	ENSP00000189978.6:p.Gly496Arg
ENST00000374438.1:n.775G>A
ENST00000374440.7:c.1486G>A	ENSP00000363563.4:p.Gly496Arg
ENST00000374448.8:c.1744G>A	ENSP00000363571.4:p.Gly582Arg
ENST00000416899.7:c.1720G>A	ENSP00000393608.3:p.Gly574Arg
XM_005251994.2:c.1774G>A	XP_005252051.1:p.Gly592Arg
XM_005251994.3:c.1774G>A	XP_005252051.1:p.Gly592Arg
XM_005251995.2:c.1750G>A	XP_005252052.1:p.Gly584Arg
XM_005251995.3:c.1750G>A	XP_005252052.1:p.Gly584Arg
XM_005251996.2:c.1720G>A	XP_005252053.1:p.Gly574Arg
XM_005251996.3:c.1720G>A	XP_005252053.1:p.Gly574Arg
XM_011518707.1:c.1804G>A	XP_011517009.1:p.Gly602Arg
XM_011518708.1:c.508G>A	XP_011517010.1:p.Gly170Arg
XM_011518708.2:c.508G>A	XP_011517010.1:p.Gly170Arg
XM_017014734.1:c.1510G>A	XP_016870223.1:p.Gly504Arg
XR_001746892.1:n.39C>T