Canonical Allele Identifier: CA5184536

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800319C>T , CM000671.2:g.110800319C>T	GRCh38
NC_000009.11:g.113562599C>T , CM000671.1:g.113562599C>T	GRCh37
NC_000009.10:g.112602420C>T	NCBI36
NG_016016.1:g.136549C>T
NG_016016.2:g.136529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1941C>T MANE Select	ENSP00000363571.4:p.Val647=
ENST00000189978.10:c.1683C>T	ENSP00000189978.6:p.Val561=
ENST00000374440.7:c.1683C>T	ENSP00000363563.4:p.Val561=
ENST00000374448.8:c.1941C>T	ENSP00000363571.4:p.Val647=
ENST00000416899.7:c.1917C>T	ENSP00000393608.3:p.Val639=
NM_001166280.1:c.1683C>T	NP_001159752.1:p.Val561=
NM_001166281.1:c.1653C>T	NP_001159753.1:p.Val551=
NM_005592.3:c.1941C>T	NP_005583.1:p.Val647=
XM_005251994.2:c.1971C>T	XP_005252051.1:p.Val657=
XM_005251995.2:c.1947C>T	XP_005252052.1:p.Val649=
XM_005251996.2:c.1917C>T	XP_005252053.1:p.Val639=
XM_011518707.1:c.2001C>T	XP_011517009.1:p.Val667=
XM_011518708.1:c.705C>T	XP_011517010.1:p.Val235=
XM_005251994.3:c.1971C>T	XP_005252051.1:p.Val657=
XM_005251995.3:c.1947C>T	XP_005252052.1:p.Val649=
XM_005251996.3:c.1917C>T	XP_005252053.1:p.Val639=
XM_011518708.2:c.705C>T	XP_011517010.1:p.Val235=
XM_017014734.1:c.1707C>T	XP_016870223.1:p.Val569=
NM_001166280.2:c.1683C>T	NP_001159752.1:p.Val561=
NM_001166281.2:c.1653C>T	NP_001159753.1:p.Val551=
NM_001369398.1:c.681C>T	NP_001356327.1:p.Val227=
NM_005592.4:c.1941C>T MANE Select	NP_005583.1:p.Val647=