Canonical Allele Identifier: CA5184225

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110762188T>G , CM000671.2:g.110762188T>G	GRCh38
NC_000009.11:g.113524468T>G , CM000671.1:g.113524468T>G	GRCh37
NC_000009.10:g.112564289T>G	NCBI36
NG_016016.1:g.98418T>G
NG_016016.2:g.98398T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.914-14T>G MANE Select	NP_005583.1:n.914-14T>G
ENST00000374448.9:c.914-14T>G MANE Select	ENSP00000363571.4:n.914-14T>G
NM_001166280.1:c.944-14T>G	NP_001159752.1:n.944-14T>G
NM_001166280.2:c.944-14T>G	NP_001159752.1:n.944-14T>G
NM_001166281.1:c.914-14T>G	NP_001159753.1:n.914-14T>G
NM_001166281.2:c.914-14T>G	NP_001159753.1:n.914-14T>G
NM_001369398.1:c.-323-14T>G	NP_001356327.1:n.-323-14T>G
NM_005592.3:c.914-14T>G	NP_005583.1:n.914-14T>G
ENST00000189978.10:c.944-14T>G	ENSP00000189978.6:n.944-14T>G
ENST00000374440.7:c.944-13593T>G	ENSP00000363563.4:n.944-13593T>G
ENST00000374448.8:c.914-14T>G	ENSP00000363571.4:n.914-14T>G
ENST00000416899.7:c.914-14T>G	ENSP00000393608.3:n.914-14T>G
ENST00000634612.1:n.336-14T>G
XM_005251994.2:c.944-14T>G	XP_005252051.1:n.944-14T>G
XM_005251994.3:c.944-14T>G	XP_005252051.1:n.944-14T>G
XM_005251995.2:c.944-14T>G	XP_005252052.1:n.944-14T>G
XM_005251995.3:c.944-14T>G	XP_005252052.1:n.944-14T>G
XM_005251996.2:c.914-14T>G	XP_005252053.1:n.914-14T>G
XM_005251996.3:c.914-14T>G	XP_005252053.1:n.914-14T>G
XM_011518707.1:c.974-14T>G	XP_011517009.1:n.974-14T>G
XM_011518708.1:c.-52-13600T>G	XP_011517010.1:n.-52-13600T>G
XM_011518708.2:c.-52-13600T>G	XP_011517010.1:n.-52-13600T>G
XM_017014734.1:c.944-14T>G	XP_016870223.1:n.944-14T>G