Canonical Allele Identifier: CA5184491

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110787774G>A , CM000671.2:g.110787774G>A	GRCh38
NC_000009.11:g.113550054G>A , CM000671.1:g.113550054G>A	GRCh37
NC_000009.10:g.112589875G>A	NCBI36
NG_016016.1:g.124004G>A
NG_016016.2:g.123984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1863G>A MANE Select	ENSP00000363571.4:p.Ala621=
ENST00000189978.10:c.1605G>A	ENSP00000189978.6:p.Ala535=
ENST00000374438.1:n.894G>A
ENST00000374440.7:c.1605G>A	ENSP00000363563.4:p.Ala535=
ENST00000374448.8:c.1863G>A	ENSP00000363571.4:p.Ala621=
ENST00000416899.7:c.1839G>A	ENSP00000393608.3:p.Ala613=
NM_001166280.1:c.1605G>A	NP_001159752.1:p.Ala535=
NM_001166281.1:c.1575G>A	NP_001159753.1:p.Ala525=
NM_005592.3:c.1863G>A	NP_005583.1:p.Ala621=
XM_005251994.2:c.1893G>A	XP_005252051.1:p.Ala631=
XM_005251995.2:c.1869G>A	XP_005252052.1:p.Ala623=
XM_005251996.2:c.1839G>A	XP_005252053.1:p.Ala613=
XM_011518707.1:c.1923G>A	XP_011517009.1:p.Ala641=
XM_011518708.1:c.627G>A	XP_011517010.1:p.Ala209=
XM_005251994.3:c.1893G>A	XP_005252051.1:p.Ala631=
XM_005251995.3:c.1869G>A	XP_005252052.1:p.Ala623=
XM_005251996.3:c.1839G>A	XP_005252053.1:p.Ala613=
XM_011518708.2:c.627G>A	XP_011517010.1:p.Ala209=
XM_017014734.1:c.1629G>A	XP_016870223.1:p.Ala543=
NM_001166280.2:c.1605G>A	NP_001159752.1:p.Ala535=
NM_001166281.2:c.1575G>A	NP_001159753.1:p.Ala525=
NM_001369398.1:c.603G>A	NP_001356327.1:p.Ala201=
NM_005592.4:c.1863G>A MANE Select	NP_005583.1:p.Ala621=