Canonical Allele Identifier: CA5184320

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110775894G>A , CM000671.2:g.110775894G>A	GRCh38
NC_000009.11:g.113538174G>A , CM000671.1:g.113538174G>A	GRCh37
NC_000009.10:g.112577995G>A	NCBI36
NG_016016.1:g.112124G>A
NG_016016.2:g.112104G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1291G>A MANE Select	NP_005583.1:p.Val431Met
ENST00000374448.9:c.1291G>A MANE Select	ENSP00000363571.4:p.Val431Met
NM_001166280.1:c.1057G>A	NP_001159752.1:p.Val353Met
NM_001166280.2:c.1057G>A	NP_001159752.1:p.Val353Met
NM_001166281.1:c.1027G>A	NP_001159753.1:p.Val343Met
NM_001166281.2:c.1027G>A	NP_001159753.1:p.Val343Met
NM_001369398.1:c.55G>A	NP_001356327.1:p.Val19Met
NM_005592.3:c.1291G>A	NP_005583.1:p.Val431Met
ENST00000189978.10:c.1057G>A	ENSP00000189978.6:p.Val353Met
ENST00000374438.1:n.548G>A
ENST00000374440.7:c.1057G>A	ENSP00000363563.4:p.Val353Met
ENST00000374448.8:c.1291G>A	ENSP00000363571.4:p.Val431Met
ENST00000416899.7:c.1291G>A	ENSP00000393608.3:p.Val431Met
XM_005251994.2:c.1321G>A	XP_005252051.1:p.Val441Met
XM_005251994.3:c.1321G>A	XP_005252051.1:p.Val441Met
XM_005251995.2:c.1321G>A	XP_005252052.1:p.Val441Met
XM_005251995.3:c.1321G>A	XP_005252052.1:p.Val441Met
XM_005251996.2:c.1291G>A	XP_005252053.1:p.Val431Met
XM_005251996.3:c.1291G>A	XP_005252053.1:p.Val431Met
XM_011518707.1:c.1351G>A	XP_011517009.1:p.Val451Met
XM_011518708.1:c.55G>A	XP_011517010.1:p.Val19Met
XM_011518708.2:c.55G>A	XP_011517010.1:p.Val19Met
XM_017014734.1:c.1057G>A	XP_016870223.1:p.Val353Met
XR_001746892.1:n.288+8919C>T