Canonical Allele Identifier: CA5184484

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110787726G>A , CM000671.2:g.110787726G>A	GRCh38
NC_000009.11:g.113550006G>A , CM000671.1:g.113550006G>A	GRCh37
NC_000009.10:g.112589827G>A	NCBI36
NG_016016.1:g.123956G>A
NG_016016.2:g.123936G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1815G>A MANE Select	NP_005583.1:p.Met605Ile
ENST00000374448.9:c.1815G>A MANE Select	ENSP00000363571.4:p.Met605Ile
NM_001166280.1:c.1557G>A	NP_001159752.1:p.Met519Ile
NM_001166280.2:c.1557G>A	NP_001159752.1:p.Met519Ile
NM_001166281.1:c.1527G>A	NP_001159753.1:p.Met509Ile
NM_001166281.2:c.1527G>A	NP_001159753.1:p.Met509Ile
NM_001369398.1:c.555G>A	NP_001356327.1:p.Met185Ile
NM_005592.3:c.1815G>A	NP_005583.1:p.Met605Ile
ENST00000189978.10:c.1557G>A	ENSP00000189978.6:p.Met519Ile
ENST00000374438.1:n.846G>A
ENST00000374440.7:c.1557G>A	ENSP00000363563.4:p.Met519Ile
ENST00000374448.8:c.1815G>A	ENSP00000363571.4:p.Met605Ile
ENST00000416899.7:c.1791G>A	ENSP00000393608.3:p.Met597Ile
XM_005251994.2:c.1845G>A	XP_005252051.1:p.Met615Ile
XM_005251994.3:c.1845G>A	XP_005252051.1:p.Met615Ile
XM_005251995.2:c.1821G>A	XP_005252052.1:p.Met607Ile
XM_005251995.3:c.1821G>A	XP_005252052.1:p.Met607Ile
XM_005251996.2:c.1791G>A	XP_005252053.1:p.Met597Ile
XM_005251996.3:c.1791G>A	XP_005252053.1:p.Met597Ile
XM_011518707.1:c.1875G>A	XP_011517009.1:p.Met625Ile
XM_011518708.1:c.579G>A	XP_011517010.1:p.Met193Ile
XM_011518708.2:c.579G>A	XP_011517010.1:p.Met193Ile
XM_017014734.1:c.1581G>A	XP_016870223.1:p.Met527Ile