Canonical Allele Identifier: CA5184514

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110787888T>C , CM000671.2:g.110787888T>C	GRCh38
NC_000009.11:g.113550168T>C , CM000671.1:g.113550168T>C	GRCh37
NC_000009.10:g.112589989T>C	NCBI36
NG_016016.1:g.124118T>C
NG_016016.2:g.124098T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1927+50T>C MANE Select	NP_005583.1:n.1927+50T>C
ENST00000374448.9:c.1927+50T>C MANE Select	ENSP00000363571.4:n.1927+50T>C
NM_001166280.1:c.1669+50T>C	NP_001159752.1:n.1669+50T>C
NM_001166280.2:c.1669+50T>C	NP_001159752.1:n.1669+50T>C
NM_001166281.1:c.1639+50T>C	NP_001159753.1:n.1639+50T>C
NM_001166281.2:c.1639+50T>C	NP_001159753.1:n.1639+50T>C
NM_001369398.1:c.667+50T>C	NP_001356327.1:n.667+50T>C
NM_005592.3:c.1927+50T>C	NP_005583.1:n.1927+50T>C
ENST00000189978.10:c.1669+50T>C	ENSP00000189978.6:n.1669+50T>C
ENST00000374438.1:n.1008T>C
ENST00000374440.7:c.1669+50T>C	ENSP00000363563.4:n.1669+50T>C
ENST00000374448.8:c.1927+50T>C	ENSP00000363571.4:n.1927+50T>C
ENST00000416899.7:c.1903+50T>C	ENSP00000393608.3:n.1903+50T>C
XM_005251994.2:c.1957+50T>C	XP_005252051.1:n.1957+50T>C
XM_005251994.3:c.1957+50T>C	XP_005252051.1:n.1957+50T>C
XM_005251995.2:c.1933+50T>C	XP_005252052.1:n.1933+50T>C
XM_005251995.3:c.1933+50T>C	XP_005252052.1:n.1933+50T>C
XM_005251996.2:c.1903+50T>C	XP_005252053.1:n.1903+50T>C
XM_005251996.3:c.1903+50T>C	XP_005252053.1:n.1903+50T>C
XM_011518707.1:c.1987+50T>C	XP_011517009.1:n.1987+50T>C
XM_011518708.1:c.691+50T>C	XP_011517010.1:n.691+50T>C
XM_011518708.2:c.691+50T>C	XP_011517010.1:n.691+50T>C
XM_017014734.1:c.1693+50T>C	XP_016870223.1:n.1693+50T>C