Canonical Allele Identifier: CA5184629

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800821G>T , CM000671.2:g.110800821G>T	GRCh38
NC_000009.11:g.113563101G>T , CM000671.1:g.113563101G>T	GRCh37
NC_000009.10:g.112602922G>T	NCBI36
NG_016016.1:g.137051G>T
NG_016016.2:g.137031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2443G>T MANE Select	ENSP00000363571.4:p.Val815Leu
ENST00000189978.10:c.2185G>T	ENSP00000189978.6:p.Val729Leu
ENST00000374440.7:c.2185G>T	ENSP00000363563.4:p.Val729Leu
ENST00000374448.8:c.2443G>T	ENSP00000363571.4:p.Val815Leu
ENST00000416899.7:c.2419G>T	ENSP00000393608.3:p.Val807Leu
NM_001166280.1:c.2185G>T	NP_001159752.1:p.Val729Leu
NM_001166281.1:c.2155G>T	NP_001159753.1:p.Val719Leu
NM_005592.3:c.2443G>T	NP_005583.1:p.Val815Leu
XM_005251994.2:c.2473G>T	XP_005252051.1:p.Val825Leu
XM_005251995.2:c.2449G>T	XP_005252052.1:p.Val817Leu
XM_005251996.2:c.2419G>T	XP_005252053.1:p.Val807Leu
XM_011518707.1:c.2503G>T	XP_011517009.1:p.Val835Leu
XM_011518708.1:c.1207G>T	XP_011517010.1:p.Val403Leu
XM_005251994.3:c.2473G>T	XP_005252051.1:p.Val825Leu
XM_005251995.3:c.2449G>T	XP_005252052.1:p.Val817Leu
XM_005251996.3:c.2419G>T	XP_005252053.1:p.Val807Leu
XM_011518708.2:c.1207G>T	XP_011517010.1:p.Val403Leu
XM_017014734.1:c.2209G>T	XP_016870223.1:p.Val737Leu
NM_001166280.2:c.2185G>T	NP_001159752.1:p.Val729Leu
NM_001166281.2:c.2155G>T	NP_001159753.1:p.Val719Leu
NM_001369398.1:c.1183G>T	NP_001356327.1:p.Val395Leu
NM_005592.4:c.2443G>T MANE Select	NP_005583.1:p.Val815Leu