Canonical Allele Identifier: CA374479434

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800735G>A , CM000671.2:g.110800735G>A	GRCh38
NC_000009.11:g.113563015G>A , CM000671.1:g.113563015G>A	GRCh37
NC_000009.10:g.112602836G>A	NCBI36
NG_016016.1:g.136965G>A
NG_016016.2:g.136945G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.2357G>A MANE Select	NP_005583.1:p.Trp786Ter
ENST00000374448.9:c.2357G>A MANE Select	ENSP00000363571.4:p.Trp786Ter
NM_001166280.1:c.2099G>A	NP_001159752.1:p.Trp700Ter
NM_001166280.2:c.2099G>A	NP_001159752.1:p.Trp700Ter
NM_001166281.1:c.2069G>A	NP_001159753.1:p.Trp690Ter
NM_001166281.2:c.2069G>A	NP_001159753.1:p.Trp690Ter
NM_001369398.1:c.1097G>A	NP_001356327.1:p.Trp366Ter
NM_005592.3:c.2357G>A	NP_005583.1:p.Trp786Ter
ENST00000189978.10:c.2099G>A	ENSP00000189978.6:p.Trp700Ter
ENST00000374440.7:c.2099G>A	ENSP00000363563.4:p.Trp700Ter
ENST00000374448.8:c.2357G>A	ENSP00000363571.4:p.Trp786Ter
ENST00000416899.7:c.2333G>A	ENSP00000393608.3:p.Trp778Ter
XM_005251994.2:c.2387G>A	XP_005252051.1:p.Trp796Ter
XM_005251994.3:c.2387G>A	XP_005252051.1:p.Trp796Ter
XM_005251995.2:c.2363G>A	XP_005252052.1:p.Trp788Ter
XM_005251995.3:c.2363G>A	XP_005252052.1:p.Trp788Ter
XM_005251996.2:c.2333G>A	XP_005252053.1:p.Trp778Ter
XM_005251996.3:c.2333G>A	XP_005252053.1:p.Trp778Ter
XM_011518707.1:c.2417G>A	XP_011517009.1:p.Trp806Ter
XM_011518708.1:c.1121G>A	XP_011517010.1:p.Trp374Ter
XM_011518708.2:c.1121G>A	XP_011517010.1:p.Trp374Ter
XM_017014734.1:c.2123G>A	XP_016870223.1:p.Trp708Ter