Canonical Allele Identifier: CA5184424

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785623G>A , CM000671.2:g.110785623G>A	GRCh38
NC_000009.11:g.113547903G>A , CM000671.1:g.113547903G>A	GRCh37
NC_000009.10:g.112587724G>A	NCBI36
NG_016016.1:g.121853G>A
NG_016016.2:g.121833G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1683G>A MANE Select	NP_005583.1:p.Leu561=
ENST00000374448.9:c.1683G>A MANE Select	ENSP00000363571.4:p.Leu561=
NM_001166280.1:c.1425G>A	NP_001159752.1:p.Leu475=
NM_001166280.2:c.1425G>A	NP_001159752.1:p.Leu475=
NM_001166281.1:c.1395G>A	NP_001159753.1:p.Leu465=
NM_001166281.2:c.1395G>A	NP_001159753.1:p.Leu465=
NM_001369398.1:c.423G>A	NP_001356327.1:p.Leu141=
NM_005592.3:c.1683G>A	NP_005583.1:p.Leu561=
ENST00000189978.10:c.1425G>A	ENSP00000189978.6:p.Leu475=
ENST00000374438.1:n.714G>A
ENST00000374440.7:c.1425G>A	ENSP00000363563.4:p.Leu475=
ENST00000374448.8:c.1683G>A	ENSP00000363571.4:p.Leu561=
ENST00000416899.7:c.1659G>A	ENSP00000393608.3:p.Leu553=
XM_005251994.2:c.1713G>A	XP_005252051.1:p.Leu571=
XM_005251994.3:c.1713G>A	XP_005252051.1:p.Leu571=
XM_005251995.2:c.1689G>A	XP_005252052.1:p.Leu563=
XM_005251995.3:c.1689G>A	XP_005252052.1:p.Leu563=
XM_005251996.2:c.1659G>A	XP_005252053.1:p.Leu553=
XM_005251996.3:c.1659G>A	XP_005252053.1:p.Leu553=
XM_011518707.1:c.1743G>A	XP_011517009.1:p.Leu581=
XM_011518708.1:c.447G>A	XP_011517010.1:p.Leu149=
XM_011518708.2:c.447G>A	XP_011517010.1:p.Leu149=
XM_017014734.1:c.1449G>A	XP_016870223.1:p.Leu483=
XR_001746892.1:n.100C>T