Canonical Allele Identifier: CA5183989

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110687287C>T , CM000671.2:g.110687287C>T	GRCh38
NC_000009.11:g.113449567C>T , CM000671.1:g.113449567C>T	GRCh37
NC_000009.10:g.112489388C>T	NCBI36
NG_016016.1:g.23517C>T
NG_016016.2:g.23497C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.358+19C>T MANE Select	NP_005583.1:n.358+19C>T
ENST00000374448.9:c.358+19C>T MANE Select	ENSP00000363571.4:n.358+19C>T
NM_001166280.1:c.358+19C>T	NP_001159752.1:n.358+19C>T
NM_001166280.2:c.358+19C>T	NP_001159752.1:n.358+19C>T
NM_001166281.1:c.358+19C>T	NP_001159753.1:n.358+19C>T
NM_001166281.2:c.358+19C>T	NP_001159753.1:n.358+19C>T
NM_005592.3:c.358+19C>T	NP_005583.1:n.358+19C>T
ENST00000189978.10:c.358+19C>T	ENSP00000189978.6:n.358+19C>T
ENST00000374439.1:c.52+19C>T	ENSP00000363562.2:n.52+19C>T
ENST00000374440.7:c.358+19C>T	ENSP00000363563.4:n.358+19C>T
ENST00000374448.8:c.358+19C>T	ENSP00000363571.4:n.358+19C>T
ENST00000416899.7:c.358+19C>T	ENSP00000393608.3:n.358+19C>T
XM_005251994.2:c.358+19C>T	XP_005252051.1:n.358+19C>T
XM_005251994.3:c.358+19C>T	XP_005252051.1:n.358+19C>T
XM_005251995.2:c.358+19C>T	XP_005252052.1:n.358+19C>T
XM_005251995.3:c.358+19C>T	XP_005252052.1:n.358+19C>T
XM_005251996.2:c.358+19C>T	XP_005252053.1:n.358+19C>T
XM_005251996.3:c.358+19C>T	XP_005252053.1:n.358+19C>T
XM_011518707.1:c.358+19C>T	XP_011517009.1:n.358+19C>T
XM_017014734.1:c.358+19C>T	XP_016870223.1:n.358+19C>T