Canonical Allele Identifier: CA1872205796

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800863G= , CM000671.2:g.110800863G=	GRCh38
NC_000009.11:g.113563143G= , CM000671.1:g.113563143G=	GRCh37
NC_000009.10:g.112602964G=	NCBI36
NG_016016.1:g.137093G=
NG_016016.2:g.137073G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.2485G= MANE Select	NP_005583.1:p.Val829=
ENST00000374448.9:c.2485G= MANE Select	ENSP00000363571.4:p.Val829=
NM_001166280.1:c.2227G=	NP_001159752.1:p.Val743=
NM_001166280.2:c.2227G=	NP_001159752.1:p.Val743=
NM_001166281.1:c.2197G=	NP_001159753.1:p.Val733=
NM_001166281.2:c.2197G=	NP_001159753.1:p.Val733=
NM_001369398.1:c.1225G=	NP_001356327.1:p.Val409=
NM_005592.3:c.2485G=	NP_005583.1:p.Val829=
ENST00000189978.10:c.2227G=	ENSP00000189978.6:p.Val743=
ENST00000374440.7:c.2227G=	ENSP00000363563.4:p.Val743=
ENST00000374448.8:c.2485G=	ENSP00000363571.4:p.Val829=
ENST00000416899.7:c.2461G=	ENSP00000393608.3:p.Val821=
XM_005251994.2:c.2515G=	XP_005252051.1:p.Val839=
XM_005251994.3:c.2515G=	XP_005252051.1:p.Val839=
XM_005251995.2:c.2491G=	XP_005252052.1:p.Val831=
XM_005251995.3:c.2491G=	XP_005252052.1:p.Val831=
XM_005251996.2:c.2461G=	XP_005252053.1:p.Val821=
XM_005251996.3:c.2461G=	XP_005252053.1:p.Val821=
XM_011518707.1:c.2545G=	XP_011517009.1:p.Val849=
XM_011518708.1:c.1249G=	XP_011517010.1:p.Val417=
XM_011518708.2:c.1249G=	XP_011517010.1:p.Val417=
XM_017014734.1:c.2251G=	XP_016870223.1:p.Val751=