Canonical Allele Identifier: CA374479832

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800839C>T , CM000671.2:g.110800839C>T	GRCh38
NC_000009.11:g.113563119C>T , CM000671.1:g.113563119C>T	GRCh37
NC_000009.10:g.112602940C>T	NCBI36
NG_016016.1:g.137069C>T
NG_016016.2:g.137049C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.2461C>T MANE Select	NP_005583.1:p.Leu821Phe
ENST00000374448.9:c.2461C>T MANE Select	ENSP00000363571.4:p.Leu821Phe
NM_001166280.1:c.2203C>T	NP_001159752.1:p.Leu735Phe
NM_001166280.2:c.2203C>T	NP_001159752.1:p.Leu735Phe
NM_001166281.1:c.2173C>T	NP_001159753.1:p.Leu725Phe
NM_001166281.2:c.2173C>T	NP_001159753.1:p.Leu725Phe
NM_001369398.1:c.1201C>T	NP_001356327.1:p.Leu401Phe
NM_005592.3:c.2461C>T	NP_005583.1:p.Leu821Phe
ENST00000189978.10:c.2203C>T	ENSP00000189978.6:p.Leu735Phe
ENST00000374440.7:c.2203C>T	ENSP00000363563.4:p.Leu735Phe
ENST00000374448.8:c.2461C>T	ENSP00000363571.4:p.Leu821Phe
ENST00000416899.7:c.2437C>T	ENSP00000393608.3:p.Leu813Phe
XM_005251994.2:c.2491C>T	XP_005252051.1:p.Leu831Phe
XM_005251994.3:c.2491C>T	XP_005252051.1:p.Leu831Phe
XM_005251995.2:c.2467C>T	XP_005252052.1:p.Leu823Phe
XM_005251995.3:c.2467C>T	XP_005252052.1:p.Leu823Phe
XM_005251996.2:c.2437C>T	XP_005252053.1:p.Leu813Phe
XM_005251996.3:c.2437C>T	XP_005252053.1:p.Leu813Phe
XM_011518707.1:c.2521C>T	XP_011517009.1:p.Leu841Phe
XM_011518708.1:c.1225C>T	XP_011517010.1:p.Leu409Phe
XM_011518708.2:c.1225C>T	XP_011517010.1:p.Leu409Phe
XM_017014734.1:c.2227C>T	XP_016870223.1:p.Leu743Phe