Canonical Allele Identifier: CA5184262

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110767924C>T , CM000671.2:g.110767924C>T	GRCh38
NC_000009.11:g.113530204C>T , CM000671.1:g.113530204C>T	GRCh37
NC_000009.10:g.112570025C>T	NCBI36
NG_016016.1:g.104154C>T
NG_016016.2:g.104134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1025C>T MANE Select	ENSP00000363571.4:p.Ala342Val
ENST00000189978.10:c.950+5716C>T	ENSP00000189978.6:n.950+5716C>T
ENST00000374440.7:c.944-7857C>T	ENSP00000363563.4:n.944-7857C>T
ENST00000374448.8:c.1025C>T	ENSP00000363571.4:p.Ala342Val
ENST00000416899.7:c.1025C>T	ENSP00000393608.3:p.Ala342Val
ENST00000634612.1:n.447C>T
NM_001166280.1:c.950+5716C>T	NP_001159752.1:n.950+5716C>T
NM_001166281.1:c.920+5716C>T	NP_001159753.1:n.920+5716C>T
NM_005592.3:c.1025C>T	NP_005583.1:p.Ala342Val
XM_005251994.2:c.1055C>T	XP_005252051.1:p.Ala352Val
XM_005251995.2:c.1055C>T	XP_005252052.1:p.Ala352Val
XM_005251996.2:c.1025C>T	XP_005252053.1:p.Ala342Val
XM_011518707.1:c.1085C>T	XP_011517009.1:p.Ala362Val
XM_011518708.1:c.-52-7864C>T	XP_011517010.1:n.-52-7864C>T
XM_005251994.3:c.1055C>T	XP_005252051.1:p.Ala352Val
XM_005251995.3:c.1055C>T	XP_005252052.1:p.Ala352Val
XM_005251996.3:c.1025C>T	XP_005252053.1:p.Ala342Val
XM_011518708.2:c.-52-7864C>T	XP_011517010.1:n.-52-7864C>T
XM_017014734.1:c.950+5716C>T	XP_016870223.1:n.950+5716C>T
XR_001746892.1:n.289-3087G>A
NM_001166280.2:c.950+5716C>T	NP_001159752.1:n.950+5716C>T
NM_001166281.2:c.920+5716C>T	NP_001159753.1:n.920+5716C>T
NM_001369398.1:c.-212C>T	NP_001356327.1:n.-212C>T
NM_005592.4:c.1025C>T MANE Select	NP_005583.1:p.Ala342Val