Canonical Allele Identifier: CA5184639

Gene: MUSK

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800863G>A , CM000671.2:g.110800863G>A	GRCh38
NC_000009.11:g.113563143G>A , CM000671.1:g.113563143G>A	GRCh37
NC_000009.10:g.112602964G>A	NCBI36
NG_016016.1:g.137093G>A
NG_016016.2:g.137073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2485G>A MANE Select	ENSP00000363571.4:p.Val829Met
ENST00000189978.10:c.2227G>A	ENSP00000189978.6:p.Val743Met
ENST00000374440.7:c.2227G>A	ENSP00000363563.4:p.Val743Met
ENST00000374448.8:c.2485G>A	ENSP00000363571.4:p.Val829Met
ENST00000416899.7:c.2461G>A	ENSP00000393608.3:p.Val821Met
NM_001166280.1:c.2227G>A	NP_001159752.1:p.Val743Met
NM_001166281.1:c.2197G>A	NP_001159753.1:p.Val733Met
NM_005592.3:c.2485G>A	NP_005583.1:p.Val829Met
XM_005251994.2:c.2515G>A	XP_005252051.1:p.Val839Met
XM_005251995.2:c.2491G>A	XP_005252052.1:p.Val831Met
XM_005251996.2:c.2461G>A	XP_005252053.1:p.Val821Met
XM_011518707.1:c.2545G>A	XP_011517009.1:p.Val849Met
XM_011518708.1:c.1249G>A	XP_011517010.1:p.Val417Met
XM_005251994.3:c.2515G>A	XP_005252051.1:p.Val839Met
XM_005251995.3:c.2491G>A	XP_005252052.1:p.Val831Met
XM_005251996.3:c.2461G>A	XP_005252053.1:p.Val821Met
XM_011518708.2:c.1249G>A	XP_011517010.1:p.Val417Met
XM_017014734.1:c.2251G>A	XP_016870223.1:p.Val751Met
NM_001166280.2:c.2227G>A	NP_001159752.1:p.Val743Met
NM_001166281.2:c.2197G>A	NP_001159753.1:p.Val733Met
NM_001369398.1:c.1225G>A	NP_001356327.1:p.Val409Met
NM_005592.4:c.2485G>A MANE Select	NP_005583.1:p.Val829Met