Canonical Allele Identifier: CA153741

Gene: MUSK

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2485G>T MANE Select	ENSP00000363571.4:p.Val829Leu
ENST00000189978.10:c.2227G>T	ENSP00000189978.6:p.Val743Leu
ENST00000374440.7:c.2227G>T	ENSP00000363563.4:p.Val743Leu
ENST00000374448.8:c.2485G>T	ENSP00000363571.4:p.Val829Leu
ENST00000416899.7:c.2461G>T	ENSP00000393608.3:p.Val821Leu
NM_001166280.1:c.2227G>T	NP_001159752.1:p.Val743Leu
NM_001166281.1:c.2197G>T	NP_001159753.1:p.Val733Leu
NM_005592.3:c.2485G>T	NP_005583.1:p.Val829Leu
XM_005251994.2:c.2515G>T	XP_005252051.1:p.Val839Leu
XM_005251995.2:c.2491G>T	XP_005252052.1:p.Val831Leu
XM_005251996.2:c.2461G>T	XP_005252053.1:p.Val821Leu
XM_011518707.1:c.2545G>T	XP_011517009.1:p.Val849Leu
XM_011518708.1:c.1249G>T	XP_011517010.1:p.Val417Leu
XM_005251994.3:c.2515G>T	XP_005252051.1:p.Val839Leu
XM_005251995.3:c.2491G>T	XP_005252052.1:p.Val831Leu
XM_005251996.3:c.2461G>T	XP_005252053.1:p.Val821Leu
XM_011518708.2:c.1249G>T	XP_011517010.1:p.Val417Leu
XM_017014734.1:c.2251G>T	XP_016870223.1:p.Val751Leu
NM_001166280.2:c.2227G>T	NP_001159752.1:p.Val743Leu
NM_001166281.2:c.2197G>T	NP_001159753.1:p.Val733Leu
NM_001369398.1:c.1225G>T	NP_001356327.1:p.Val409Leu
NM_005592.4:c.2485G>T MANE Select	NP_005583.1:p.Val829Leu