Canonical Allele Identifier: CA5184544

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800369A>G , CM000671.2:g.110800369A>G	GRCh38
NC_000009.11:g.113562649A>G , CM000671.1:g.113562649A>G	GRCh37
NC_000009.10:g.112602470A>G	NCBI36
NG_016016.1:g.136599A>G
NG_016016.2:g.136579A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1991A>G MANE Select	NP_005583.1:p.Asn664Ser
ENST00000374448.9:c.1991A>G MANE Select	ENSP00000363571.4:p.Asn664Ser
NM_001166280.1:c.1733A>G	NP_001159752.1:p.Asn578Ser
NM_001166280.2:c.1733A>G	NP_001159752.1:p.Asn578Ser
NM_001166281.1:c.1703A>G	NP_001159753.1:p.Asn568Ser
NM_001166281.2:c.1703A>G	NP_001159753.1:p.Asn568Ser
NM_001369398.1:c.731A>G	NP_001356327.1:p.Asn244Ser
NM_005592.3:c.1991A>G	NP_005583.1:p.Asn664Ser
ENST00000189978.10:c.1733A>G	ENSP00000189978.6:p.Asn578Ser
ENST00000374440.7:c.1733A>G	ENSP00000363563.4:p.Asn578Ser
ENST00000374448.8:c.1991A>G	ENSP00000363571.4:p.Asn664Ser
ENST00000416899.7:c.1967A>G	ENSP00000393608.3:p.Asn656Ser
XM_005251994.2:c.2021A>G	XP_005252051.1:p.Asn674Ser
XM_005251994.3:c.2021A>G	XP_005252051.1:p.Asn674Ser
XM_005251995.2:c.1997A>G	XP_005252052.1:p.Asn666Ser
XM_005251995.3:c.1997A>G	XP_005252052.1:p.Asn666Ser
XM_005251996.2:c.1967A>G	XP_005252053.1:p.Asn656Ser
XM_005251996.3:c.1967A>G	XP_005252053.1:p.Asn656Ser
XM_011518707.1:c.2051A>G	XP_011517009.1:p.Asn684Ser
XM_011518708.1:c.755A>G	XP_011517010.1:p.Asn252Ser
XM_011518708.2:c.755A>G	XP_011517010.1:p.Asn252Ser
XM_017014734.1:c.1757A>G	XP_016870223.1:p.Asn586Ser