Canonical Allele Identifier: CA5184570

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800476G>A , CM000671.2:g.110800476G>A	GRCh38
NC_000009.11:g.113562756G>A , CM000671.1:g.113562756G>A	GRCh37
NC_000009.10:g.112602577G>A	NCBI36
NG_016016.1:g.136706G>A
NG_016016.2:g.136686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2098G>A MANE Select	ENSP00000363571.4:p.Ala700Thr
ENST00000189978.10:c.1840G>A	ENSP00000189978.6:p.Ala614Thr
ENST00000374440.7:c.1840G>A	ENSP00000363563.4:p.Ala614Thr
ENST00000374448.8:c.2098G>A	ENSP00000363571.4:p.Ala700Thr
ENST00000416899.7:c.2074G>A	ENSP00000393608.3:p.Ala692Thr
NM_001166280.1:c.1840G>A	NP_001159752.1:p.Ala614Thr
NM_001166281.1:c.1810G>A	NP_001159753.1:p.Ala604Thr
NM_005592.3:c.2098G>A	NP_005583.1:p.Ala700Thr
XM_005251994.2:c.2128G>A	XP_005252051.1:p.Ala710Thr
XM_005251995.2:c.2104G>A	XP_005252052.1:p.Ala702Thr
XM_005251996.2:c.2074G>A	XP_005252053.1:p.Ala692Thr
XM_011518707.1:c.2158G>A	XP_011517009.1:p.Ala720Thr
XM_011518708.1:c.862G>A	XP_011517010.1:p.Ala288Thr
XM_005251994.3:c.2128G>A	XP_005252051.1:p.Ala710Thr
XM_005251995.3:c.2104G>A	XP_005252052.1:p.Ala702Thr
XM_005251996.3:c.2074G>A	XP_005252053.1:p.Ala692Thr
XM_011518708.2:c.862G>A	XP_011517010.1:p.Ala288Thr
XM_017014734.1:c.1864G>A	XP_016870223.1:p.Ala622Thr
NM_001166280.2:c.1840G>A	NP_001159752.1:p.Ala614Thr
NM_001166281.2:c.1810G>A	NP_001159753.1:p.Ala604Thr
NM_001369398.1:c.838G>A	NP_001356327.1:p.Ala280Thr
NM_005592.4:c.2098G>A MANE Select	NP_005583.1:p.Ala700Thr