Canonical Allele Identifier: CA374475403

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110784985C>T , CM000671.2:g.110784985C>T	GRCh38
NC_000009.11:g.113547265C>T , CM000671.1:g.113547265C>T	GRCh37
NC_000009.10:g.112587086C>T	NCBI36
NG_016016.1:g.121215C>T
NG_016016.2:g.121195C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1555C>T MANE Select	NP_005583.1:p.Arg519Ter
ENST00000374448.9:c.1555C>T MANE Select	ENSP00000363571.4:p.Arg519Ter
NM_001166280.1:c.1297C>T	NP_001159752.1:p.Arg433Ter
NM_001166280.2:c.1297C>T	NP_001159752.1:p.Arg433Ter
NM_001166281.1:c.1267C>T	NP_001159753.1:p.Arg423Ter
NM_001166281.2:c.1267C>T	NP_001159753.1:p.Arg423Ter
NM_001369398.1:c.295C>T	NP_001356327.1:p.Arg99Ter
NM_005592.3:c.1555C>T	NP_005583.1:p.Arg519Ter
ENST00000189978.10:c.1297C>T	ENSP00000189978.6:p.Arg433Ter
ENST00000374438.1:n.618-542C>T
ENST00000374440.7:c.1297C>T	ENSP00000363563.4:p.Arg433Ter
ENST00000374448.8:c.1555C>T	ENSP00000363571.4:p.Arg519Ter
ENST00000416899.7:c.1531C>T	ENSP00000393608.3:p.Arg511Ter
XM_005251994.2:c.1585C>T	XP_005252051.1:p.Arg529Ter
XM_005251994.3:c.1585C>T	XP_005252051.1:p.Arg529Ter
XM_005251995.2:c.1561C>T	XP_005252052.1:p.Arg521Ter
XM_005251995.3:c.1561C>T	XP_005252052.1:p.Arg521Ter
XM_005251996.2:c.1531C>T	XP_005252053.1:p.Arg511Ter
XM_005251996.3:c.1531C>T	XP_005252053.1:p.Arg511Ter
XM_011518707.1:c.1615C>T	XP_011517009.1:p.Arg539Ter
XM_011518708.1:c.319C>T	XP_011517010.1:p.Arg107Ter
XM_011518708.2:c.319C>T	XP_011517010.1:p.Arg107Ter
XM_017014734.1:c.1321C>T	XP_016870223.1:p.Arg441Ter
XR_001746892.1:n.121-5G>A