Canonical Allele Identifier: CA198363795

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800786A>G , CM000671.2:g.110800786A>G	GRCh38
NC_000009.11:g.113563066A>G , CM000671.1:g.113563066A>G	GRCh37
NC_000009.10:g.112602887A>G	NCBI36
NG_016016.1:g.137016A>G
NG_016016.2:g.136996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2408A>G MANE Select	ENSP00000363571.4:p.Tyr803Cys
ENST00000189978.10:c.2150A>G	ENSP00000189978.6:p.Tyr717Cys
ENST00000374440.7:c.2150A>G	ENSP00000363563.4:p.Tyr717Cys
ENST00000374448.8:c.2408A>G	ENSP00000363571.4:p.Tyr803Cys
ENST00000416899.7:c.2384A>G	ENSP00000393608.3:p.Tyr795Cys
NM_001166280.1:c.2150A>G	NP_001159752.1:p.Tyr717Cys
NM_001166281.1:c.2120A>G	NP_001159753.1:p.Tyr707Cys
NM_005592.3:c.2408A>G	NP_005583.1:p.Tyr803Cys
XM_005251994.2:c.2438A>G	XP_005252051.1:p.Tyr813Cys
XM_005251995.2:c.2414A>G	XP_005252052.1:p.Tyr805Cys
XM_005251996.2:c.2384A>G	XP_005252053.1:p.Tyr795Cys
XM_011518707.1:c.2468A>G	XP_011517009.1:p.Tyr823Cys
XM_011518708.1:c.1172A>G	XP_011517010.1:p.Tyr391Cys
XM_005251994.3:c.2438A>G	XP_005252051.1:p.Tyr813Cys
XM_005251995.3:c.2414A>G	XP_005252052.1:p.Tyr805Cys
XM_005251996.3:c.2384A>G	XP_005252053.1:p.Tyr795Cys
XM_011518708.2:c.1172A>G	XP_011517010.1:p.Tyr391Cys
XM_017014734.1:c.2174A>G	XP_016870223.1:p.Tyr725Cys
NM_001166280.2:c.2150A>G	NP_001159752.1:p.Tyr717Cys
NM_001166281.2:c.2120A>G	NP_001159753.1:p.Tyr707Cys
NM_001369398.1:c.1148A>G	NP_001356327.1:p.Tyr383Cys
NM_005592.4:c.2408A>G MANE Select	NP_005583.1:p.Tyr803Cys