Canonical Allele Identifier: CA5184422

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785613C>T , CM000671.2:g.110785613C>T	GRCh38
NC_000009.11:g.113547893C>T , CM000671.1:g.113547893C>T	GRCh37
NC_000009.10:g.112587714C>T	NCBI36
NG_016016.1:g.121843C>T
NG_016016.2:g.121823C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1673C>T MANE Select	NP_005583.1:p.Pro558Leu
ENST00000374448.9:c.1673C>T MANE Select	ENSP00000363571.4:p.Pro558Leu
NM_001166280.1:c.1415C>T	NP_001159752.1:p.Pro472Leu
NM_001166280.2:c.1415C>T	NP_001159752.1:p.Pro472Leu
NM_001166281.1:c.1385C>T	NP_001159753.1:p.Pro462Leu
NM_001166281.2:c.1385C>T	NP_001159753.1:p.Pro462Leu
NM_001369398.1:c.413C>T	NP_001356327.1:p.Pro138Leu
NM_005592.3:c.1673C>T	NP_005583.1:p.Pro558Leu
ENST00000189978.10:c.1415C>T	ENSP00000189978.6:p.Pro472Leu
ENST00000374438.1:n.704C>T
ENST00000374440.7:c.1415C>T	ENSP00000363563.4:p.Pro472Leu
ENST00000374448.8:c.1673C>T	ENSP00000363571.4:p.Pro558Leu
ENST00000416899.7:c.1649C>T	ENSP00000393608.3:p.Pro550Leu
XM_005251994.2:c.1703C>T	XP_005252051.1:p.Pro568Leu
XM_005251994.3:c.1703C>T	XP_005252051.1:p.Pro568Leu
XM_005251995.2:c.1679C>T	XP_005252052.1:p.Pro560Leu
XM_005251995.3:c.1679C>T	XP_005252052.1:p.Pro560Leu
XM_005251996.2:c.1649C>T	XP_005252053.1:p.Pro550Leu
XM_005251996.3:c.1649C>T	XP_005252053.1:p.Pro550Leu
XM_011518707.1:c.1733C>T	XP_011517009.1:p.Pro578Leu
XM_011518708.1:c.437C>T	XP_011517010.1:p.Pro146Leu
XM_011518708.2:c.437C>T	XP_011517010.1:p.Pro146Leu
XM_017014734.1:c.1439C>T	XP_016870223.1:p.Pro480Leu
XR_001746892.1:n.110G>A