Canonical Allele Identifier: CA374476013

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785719G>T , CM000671.2:g.110785719G>T	GRCh38
NC_000009.11:g.113547999G>T , CM000671.1:g.113547999G>T	GRCh37
NC_000009.10:g.112587820G>T	NCBI36
NG_016016.1:g.121949G>T
NG_016016.2:g.121929G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1778+1G>T MANE Select	NP_005583.1:n.1778+1G>T
ENST00000374448.9:c.1778+1G>T MANE Select	ENSP00000363571.4:n.1778+1G>T
NM_001166280.1:c.1520+1G>T	NP_001159752.1:n.1520+1G>T
NM_001166280.2:c.1520+1G>T	NP_001159752.1:n.1520+1G>T
NM_001166281.1:c.1490+1G>T	NP_001159753.1:n.1490+1G>T
NM_001166281.2:c.1490+1G>T	NP_001159753.1:n.1490+1G>T
NM_001369398.1:c.518+1G>T	NP_001356327.1:n.518+1G>T
NM_005592.3:c.1778+1G>T	NP_005583.1:n.1778+1G>T
ENST00000189978.10:c.1520+1G>T	ENSP00000189978.6:n.1520+1G>T
ENST00000374438.1:n.809+1G>T
ENST00000374440.7:c.1520+1G>T	ENSP00000363563.4:n.1520+1G>T
ENST00000374448.8:c.1778+1G>T	ENSP00000363571.4:n.1778+1G>T
ENST00000416899.7:c.1754+1G>T	ENSP00000393608.3:n.1754+1G>T
XM_005251994.2:c.1808+1G>T	XP_005252051.1:n.1808+1G>T
XM_005251994.3:c.1808+1G>T	XP_005252051.1:n.1808+1G>T
XM_005251995.2:c.1784+1G>T	XP_005252052.1:n.1784+1G>T
XM_005251995.3:c.1784+1G>T	XP_005252052.1:n.1784+1G>T
XM_005251996.2:c.1754+1G>T	XP_005252053.1:n.1754+1G>T
XM_005251996.3:c.1754+1G>T	XP_005252053.1:n.1754+1G>T
XM_011518707.1:c.1838+1G>T	XP_011517009.1:n.1838+1G>T
XM_011518708.1:c.542+1G>T	XP_011517010.1:n.542+1G>T
XM_011518708.2:c.542+1G>T	XP_011517010.1:n.542+1G>T
XM_017014734.1:c.1544+1G>T	XP_016870223.1:n.1544+1G>T
XR_001746892.1:n.4C>A