Canonical Allele Identifier: CA198350707

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110767708A>G , CM000671.2:g.110767708A>G	GRCh38
NC_000009.11:g.113529988A>G , CM000671.1:g.113529988A>G	GRCh37
NC_000009.10:g.112569809A>G	NCBI36
NG_016016.1:g.103938A>G
NG_016016.2:g.103918A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.921-112A>G MANE Select	NP_005583.1:n.921-112A>G
ENST00000374448.9:c.921-112A>G MANE Select	ENSP00000363571.4:n.921-112A>G
NM_001166280.1:c.950+5500A>G	NP_001159752.1:n.950+5500A>G
NM_001166280.2:c.950+5500A>G	NP_001159752.1:n.950+5500A>G
NM_001166281.1:c.920+5500A>G	NP_001159753.1:n.920+5500A>G
NM_001166281.2:c.920+5500A>G	NP_001159753.1:n.920+5500A>G
NM_001369398.1:c.-316-112A>G	NP_001356327.1:n.-316-112A>G
NM_005592.3:c.921-112A>G	NP_005583.1:n.921-112A>G
ENST00000189978.10:c.950+5500A>G	ENSP00000189978.6:n.950+5500A>G
ENST00000374440.7:c.944-8073A>G	ENSP00000363563.4:n.944-8073A>G
ENST00000374448.8:c.921-112A>G	ENSP00000363571.4:n.921-112A>G
ENST00000416899.7:c.921-112A>G	ENSP00000393608.3:n.921-112A>G
ENST00000634612.1:n.343-112A>G
XM_005251994.2:c.951-112A>G	XP_005252051.1:n.951-112A>G
XM_005251994.3:c.951-112A>G	XP_005252051.1:n.951-112A>G
XM_005251995.2:c.951-112A>G	XP_005252052.1:n.951-112A>G
XM_005251995.3:c.951-112A>G	XP_005252052.1:n.951-112A>G
XM_005251996.2:c.921-112A>G	XP_005252053.1:n.921-112A>G
XM_005251996.3:c.921-112A>G	XP_005252053.1:n.921-112A>G
XM_011518707.1:c.981-112A>G	XP_011517009.1:n.981-112A>G
XM_011518708.1:c.-52-8080A>G	XP_011517010.1:n.-52-8080A>G
XM_011518708.2:c.-52-8080A>G	XP_011517010.1:n.-52-8080A>G
XM_017014734.1:c.950+5500A>G	XP_016870223.1:n.950+5500A>G
XR_001746892.1:n.289-2871T>C