Canonical Allele Identifier: CA5184185

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110747677C>T , CM000671.2:g.110747677C>T	GRCh38
NC_000009.11:g.113509957C>T , CM000671.1:g.113509957C>T	GRCh37
NC_000009.10:g.112549778C>T	NCBI36
NG_016016.1:g.83907C>T
NG_016016.2:g.83887C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.790C>T MANE Select	NP_005583.1:p.Arg264Ter
ENST00000374448.9:c.790C>T MANE Select	ENSP00000363571.4:p.Arg264Ter
NM_001166280.1:c.820C>T	NP_001159752.1:p.Arg274Ter
NM_001166280.2:c.820C>T	NP_001159752.1:p.Arg274Ter
NM_001166281.1:c.790C>T	NP_001159753.1:p.Arg264Ter
NM_001166281.2:c.790C>T	NP_001159753.1:p.Arg264Ter
NM_001369398.1:c.-447C>T	NP_001356327.1:n.-447C>T
NM_005592.3:c.790C>T	NP_005583.1:p.Arg264Ter
ENST00000189978.10:c.820C>T	ENSP00000189978.6:p.Arg274Ter
ENST00000374440.7:c.820C>T	ENSP00000363563.4:p.Arg274Ter
ENST00000374448.8:c.790C>T	ENSP00000363571.4:p.Arg264Ter
ENST00000416899.7:c.790C>T	ENSP00000393608.3:p.Arg264Ter
ENST00000634612.1:n.212C>T
XM_005251994.2:c.820C>T	XP_005252051.1:p.Arg274Ter
XM_005251994.3:c.820C>T	XP_005252051.1:p.Arg274Ter
XM_005251995.2:c.820C>T	XP_005252052.1:p.Arg274Ter
XM_005251995.3:c.820C>T	XP_005252052.1:p.Arg274Ter
XM_005251996.2:c.790C>T	XP_005252053.1:p.Arg264Ter
XM_005251996.3:c.790C>T	XP_005252053.1:p.Arg264Ter
XM_011518707.1:c.850C>T	XP_011517009.1:p.Arg284Ter
XM_017014734.1:c.820C>T	XP_016870223.1:p.Arg274Ter