Canonical Allele Identifier: CA5184382

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110784952G>A , CM000671.2:g.110784952G>A	GRCh38
NC_000009.11:g.113547232G>A , CM000671.1:g.113547232G>A	GRCh37
NC_000009.10:g.112587053G>A	NCBI36
NG_016016.1:g.121182G>A
NG_016016.2:g.121162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1522G>A MANE Select	ENSP00000363571.4:p.Val508Met
ENST00000189978.10:c.1264G>A	ENSP00000189978.6:p.Val422Met
ENST00000374438.1:n.618-575G>A
ENST00000374440.7:c.1264G>A	ENSP00000363563.4:p.Val422Met
ENST00000374448.8:c.1522G>A	ENSP00000363571.4:p.Val508Met
ENST00000416899.7:c.1498G>A	ENSP00000393608.3:p.Val500Met
NM_001166280.1:c.1264G>A	NP_001159752.1:p.Val422Met
NM_001166281.1:c.1234G>A	NP_001159753.1:p.Val412Met
NM_005592.3:c.1522G>A	NP_005583.1:p.Val508Met
XM_005251994.2:c.1552G>A	XP_005252051.1:p.Val518Met
XM_005251995.2:c.1528G>A	XP_005252052.1:p.Val510Met
XM_005251996.2:c.1498G>A	XP_005252053.1:p.Val500Met
XM_011518707.1:c.1582G>A	XP_011517009.1:p.Val528Met
XM_011518708.1:c.286G>A	XP_011517010.1:p.Val96Met
XM_005251994.3:c.1552G>A	XP_005252051.1:p.Val518Met
XM_005251995.3:c.1528G>A	XP_005252052.1:p.Val510Met
XM_005251996.3:c.1498G>A	XP_005252053.1:p.Val500Met
XM_011518708.2:c.286G>A	XP_011517010.1:p.Val96Met
XM_017014734.1:c.1288G>A	XP_016870223.1:p.Val430Met
XR_001746892.1:n.149C>T
NM_001166280.2:c.1264G>A	NP_001159752.1:p.Val422Met
NM_001166281.2:c.1234G>A	NP_001159753.1:p.Val412Met
NM_001369398.1:c.262G>A	NP_001356327.1:p.Val88Met
NM_005592.4:c.1522G>A MANE Select	NP_005583.1:p.Val508Met