Canonical Allele Identifier: CA5184263

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110767925G>A , CM000671.2:g.110767925G>A	GRCh38
NC_000009.11:g.113530205G>A , CM000671.1:g.113530205G>A	GRCh37
NC_000009.10:g.112570026G>A	NCBI36
NG_016016.1:g.104155G>A
NG_016016.2:g.104135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1026G>A MANE Select	ENSP00000363571.4:p.Ala342=
ENST00000189978.10:c.950+5717G>A	ENSP00000189978.6:n.950+5717G>A
ENST00000374440.7:c.944-7856G>A	ENSP00000363563.4:n.944-7856G>A
ENST00000374448.8:c.1026G>A	ENSP00000363571.4:p.Ala342=
ENST00000416899.7:c.1026G>A	ENSP00000393608.3:p.Ala342=
ENST00000634612.1:n.448G>A
NM_001166280.1:c.950+5717G>A	NP_001159752.1:n.950+5717G>A
NM_001166281.1:c.920+5717G>A	NP_001159753.1:n.920+5717G>A
NM_005592.3:c.1026G>A	NP_005583.1:p.Ala342=
XM_005251994.2:c.1056G>A	XP_005252051.1:p.Ala352=
XM_005251995.2:c.1056G>A	XP_005252052.1:p.Ala352=
XM_005251996.2:c.1026G>A	XP_005252053.1:p.Ala342=
XM_011518707.1:c.1086G>A	XP_011517009.1:p.Ala362=
XM_011518708.1:c.-52-7863G>A	XP_011517010.1:n.-52-7863G>A
XM_005251994.3:c.1056G>A	XP_005252051.1:p.Ala352=
XM_005251995.3:c.1056G>A	XP_005252052.1:p.Ala352=
XM_005251996.3:c.1026G>A	XP_005252053.1:p.Ala342=
XM_011518708.2:c.-52-7863G>A	XP_011517010.1:n.-52-7863G>A
XM_017014734.1:c.950+5717G>A	XP_016870223.1:n.950+5717G>A
XR_001746892.1:n.289-3088C>T
NM_001166280.2:c.950+5717G>A	NP_001159752.1:n.950+5717G>A
NM_001166281.2:c.920+5717G>A	NP_001159753.1:n.920+5717G>A
NM_001369398.1:c.-211G>A	NP_001356327.1:n.-211G>A
NM_005592.4:c.1026G>A MANE Select	NP_005583.1:p.Ala342=