Canonical Allele Identifier: CA374472566

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110775786A>G , CM000671.2:g.110775786A>G	GRCh38
NC_000009.11:g.113538066A>G , CM000671.1:g.113538066A>G	GRCh37
NC_000009.10:g.112577887A>G	NCBI36
NG_016016.1:g.112016A>G
NG_016016.2:g.111996A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1185-2A>G MANE Select	NP_005583.1:n.1185-2A>G
ENST00000374448.9:c.1185-2A>G MANE Select	ENSP00000363571.4:n.1185-2A>G
NM_001166280.1:c.951-2A>G	NP_001159752.1:n.951-2A>G
NM_001166280.2:c.951-2A>G	NP_001159752.1:n.951-2A>G
NM_001166281.1:c.921-2A>G	NP_001159753.1:n.921-2A>G
NM_001166281.2:c.921-2A>G	NP_001159753.1:n.921-2A>G
NM_001369398.1:c.-52-2A>G	NP_001356327.1:n.-52-2A>G
NM_005592.3:c.1185-2A>G	NP_005583.1:n.1185-2A>G
ENST00000189978.10:c.951-2A>G	ENSP00000189978.6:n.951-2A>G
ENST00000374438.1:n.440A>G
ENST00000374440.7:c.949A>G	ENSP00000363563.4:p.Arg317Gly
ENST00000374448.8:c.1185-2A>G	ENSP00000363571.4:n.1185-2A>G
ENST00000416899.7:c.1185-2A>G	ENSP00000393608.3:n.1185-2A>G
XM_005251994.2:c.1215-2A>G	XP_005252051.1:n.1215-2A>G
XM_005251994.3:c.1215-2A>G	XP_005252051.1:n.1215-2A>G
XM_005251995.2:c.1215-2A>G	XP_005252052.1:n.1215-2A>G
XM_005251995.3:c.1215-2A>G	XP_005252052.1:n.1215-2A>G
XM_005251996.2:c.1185-2A>G	XP_005252053.1:n.1185-2A>G
XM_005251996.3:c.1185-2A>G	XP_005252053.1:n.1185-2A>G
XM_011518707.1:c.1245-2A>G	XP_011517009.1:n.1245-2A>G
XM_011518708.1:c.-52-2A>G	XP_011517010.1:n.-52-2A>G
XM_011518708.2:c.-52-2A>G	XP_011517010.1:n.-52-2A>G
XM_017014734.1:c.951-2A>G	XP_016870223.1:n.951-2A>G
XR_001746892.1:n.288+9027T>C