Canonical Allele Identifier: CA5184490

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110787773C>T , CM000671.2:g.110787773C>T	GRCh38
NC_000009.11:g.113550053C>T , CM000671.1:g.113550053C>T	GRCh37
NC_000009.10:g.112589874C>T	NCBI36
NG_016016.1:g.124003C>T
NG_016016.2:g.123983C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1862C>T MANE Select	NP_005583.1:p.Ala621Val
ENST00000374448.9:c.1862C>T MANE Select	ENSP00000363571.4:p.Ala621Val
NM_001166280.1:c.1604C>T	NP_001159752.1:p.Ala535Val
NM_001166280.2:c.1604C>T	NP_001159752.1:p.Ala535Val
NM_001166281.1:c.1574C>T	NP_001159753.1:p.Ala525Val
NM_001166281.2:c.1574C>T	NP_001159753.1:p.Ala525Val
NM_001369398.1:c.602C>T	NP_001356327.1:p.Ala201Val
NM_005592.3:c.1862C>T	NP_005583.1:p.Ala621Val
ENST00000189978.10:c.1604C>T	ENSP00000189978.6:p.Ala535Val
ENST00000374438.1:n.893C>T
ENST00000374440.7:c.1604C>T	ENSP00000363563.4:p.Ala535Val
ENST00000374448.8:c.1862C>T	ENSP00000363571.4:p.Ala621Val
ENST00000416899.7:c.1838C>T	ENSP00000393608.3:p.Ala613Val
XM_005251994.2:c.1892C>T	XP_005252051.1:p.Ala631Val
XM_005251994.3:c.1892C>T	XP_005252051.1:p.Ala631Val
XM_005251995.2:c.1868C>T	XP_005252052.1:p.Ala623Val
XM_005251995.3:c.1868C>T	XP_005252052.1:p.Ala623Val
XM_005251996.2:c.1838C>T	XP_005252053.1:p.Ala613Val
XM_005251996.3:c.1838C>T	XP_005252053.1:p.Ala613Val
XM_011518707.1:c.1922C>T	XP_011517009.1:p.Ala641Val
XM_011518708.1:c.626C>T	XP_011517010.1:p.Ala209Val
XM_011518708.2:c.626C>T	XP_011517010.1:p.Ala209Val
XM_017014734.1:c.1628C>T	XP_016870223.1:p.Ala543Val