Canonical Allele Identifier: CA5184619

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800771A>G , CM000671.2:g.110800771A>G	GRCh38
NC_000009.11:g.113563051A>G , CM000671.1:g.113563051A>G	GRCh37
NC_000009.10:g.112602872A>G	NCBI36
NG_016016.1:g.137001A>G
NG_016016.2:g.136981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2393A>G MANE Select	ENSP00000363571.4:p.Tyr798Cys
ENST00000189978.10:c.2135A>G	ENSP00000189978.6:p.Tyr712Cys
ENST00000374440.7:c.2135A>G	ENSP00000363563.4:p.Tyr712Cys
ENST00000374448.8:c.2393A>G	ENSP00000363571.4:p.Tyr798Cys
ENST00000416899.7:c.2369A>G	ENSP00000393608.3:p.Tyr790Cys
NM_001166280.1:c.2135A>G	NP_001159752.1:p.Tyr712Cys
NM_001166281.1:c.2105A>G	NP_001159753.1:p.Tyr702Cys
NM_005592.3:c.2393A>G	NP_005583.1:p.Tyr798Cys
XM_005251994.2:c.2423A>G	XP_005252051.1:p.Tyr808Cys
XM_005251995.2:c.2399A>G	XP_005252052.1:p.Tyr800Cys
XM_005251996.2:c.2369A>G	XP_005252053.1:p.Tyr790Cys
XM_011518707.1:c.2453A>G	XP_011517009.1:p.Tyr818Cys
XM_011518708.1:c.1157A>G	XP_011517010.1:p.Tyr386Cys
XM_005251994.3:c.2423A>G	XP_005252051.1:p.Tyr808Cys
XM_005251995.3:c.2399A>G	XP_005252052.1:p.Tyr800Cys
XM_005251996.3:c.2369A>G	XP_005252053.1:p.Tyr790Cys
XM_011518708.2:c.1157A>G	XP_011517010.1:p.Tyr386Cys
XM_017014734.1:c.2159A>G	XP_016870223.1:p.Tyr720Cys
NM_001166280.2:c.2135A>G	NP_001159752.1:p.Tyr712Cys
NM_001166281.2:c.2105A>G	NP_001159753.1:p.Tyr702Cys
NM_001369398.1:c.1133A>G	NP_001356327.1:p.Tyr378Cys
NM_005592.4:c.2393A>G MANE Select	NP_005583.1:p.Tyr798Cys