Canonical Allele Identifier: CA374473028

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110775848G>T , CM000671.2:g.110775848G>T	GRCh38
NC_000009.11:g.113538128G>T , CM000671.1:g.113538128G>T	GRCh37
NC_000009.10:g.112577949G>T	NCBI36
NG_016016.1:g.112078G>T
NG_016016.2:g.112058G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1245G>T MANE Select	NP_005583.1:p.Glu415Asp
ENST00000374448.9:c.1245G>T MANE Select	ENSP00000363571.4:p.Glu415Asp
NM_001166280.1:c.1011G>T	NP_001159752.1:p.Glu337Asp
NM_001166280.2:c.1011G>T	NP_001159752.1:p.Glu337Asp
NM_001166281.1:c.981G>T	NP_001159753.1:p.Glu327Asp
NM_001166281.2:c.981G>T	NP_001159753.1:p.Glu327Asp
NM_001369398.1:c.9G>T	NP_001356327.1:p.Glu3Asp
NM_005592.3:c.1245G>T	NP_005583.1:p.Glu415Asp
ENST00000189978.10:c.1011G>T	ENSP00000189978.6:p.Glu337Asp
ENST00000374438.1:n.502G>T
ENST00000374440.7:c.1011G>T	ENSP00000363563.4:p.Glu337Asp
ENST00000374448.8:c.1245G>T	ENSP00000363571.4:p.Glu415Asp
ENST00000416899.7:c.1245G>T	ENSP00000393608.3:p.Glu415Asp
XM_005251994.2:c.1275G>T	XP_005252051.1:p.Glu425Asp
XM_005251994.3:c.1275G>T	XP_005252051.1:p.Glu425Asp
XM_005251995.2:c.1275G>T	XP_005252052.1:p.Glu425Asp
XM_005251995.3:c.1275G>T	XP_005252052.1:p.Glu425Asp
XM_005251996.2:c.1245G>T	XP_005252053.1:p.Glu415Asp
XM_005251996.3:c.1245G>T	XP_005252053.1:p.Glu415Asp
XM_011518707.1:c.1305G>T	XP_011517009.1:p.Glu435Asp
XM_011518708.1:c.9G>T	XP_011517010.1:p.Glu3Asp
XM_011518708.2:c.9G>T	XP_011517010.1:p.Glu3Asp
XM_017014734.1:c.1011G>T	XP_016870223.1:p.Glu337Asp
XR_001746892.1:n.288+8965C>A