Canonical Allele Identifier: CA5184317

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110775880T>C , CM000671.2:g.110775880T>C	GRCh38
NC_000009.11:g.113538160T>C , CM000671.1:g.113538160T>C	GRCh37
NC_000009.10:g.112577981T>C	NCBI36
NG_016016.1:g.112110T>C
NG_016016.2:g.112090T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1277T>C MANE Select	NP_005583.1:p.Met426Thr
ENST00000374448.9:c.1277T>C MANE Select	ENSP00000363571.4:p.Met426Thr
NM_001166280.1:c.1043T>C	NP_001159752.1:p.Met348Thr
NM_001166280.2:c.1043T>C	NP_001159752.1:p.Met348Thr
NM_001166281.1:c.1013T>C	NP_001159753.1:p.Met338Thr
NM_001166281.2:c.1013T>C	NP_001159753.1:p.Met338Thr
NM_001369398.1:c.41T>C	NP_001356327.1:p.Met14Thr
NM_005592.3:c.1277T>C	NP_005583.1:p.Met426Thr
ENST00000189978.10:c.1043T>C	ENSP00000189978.6:p.Met348Thr
ENST00000374438.1:n.534T>C
ENST00000374440.7:c.1043T>C	ENSP00000363563.4:p.Met348Thr
ENST00000374448.8:c.1277T>C	ENSP00000363571.4:p.Met426Thr
ENST00000416899.7:c.1277T>C	ENSP00000393608.3:p.Met426Thr
XM_005251994.2:c.1307T>C	XP_005252051.1:p.Met436Thr
XM_005251994.3:c.1307T>C	XP_005252051.1:p.Met436Thr
XM_005251995.2:c.1307T>C	XP_005252052.1:p.Met436Thr
XM_005251995.3:c.1307T>C	XP_005252052.1:p.Met436Thr
XM_005251996.2:c.1277T>C	XP_005252053.1:p.Met426Thr
XM_005251996.3:c.1277T>C	XP_005252053.1:p.Met426Thr
XM_011518707.1:c.1337T>C	XP_011517009.1:p.Met446Thr
XM_011518708.1:c.41T>C	XP_011517010.1:p.Met14Thr
XM_011518708.2:c.41T>C	XP_011517010.1:p.Met14Thr
XM_017014734.1:c.1043T>C	XP_016870223.1:p.Met348Thr
XR_001746892.1:n.288+8933A>G