Canonical Allele Identifier: CA374477984

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800455G>A , CM000671.2:g.110800455G>A	GRCh38
NC_000009.11:g.113562735G>A , CM000671.1:g.113562735G>A	GRCh37
NC_000009.10:g.112602556G>A	NCBI36
NG_016016.1:g.136685G>A
NG_016016.2:g.136665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2077G>A MANE Select	ENSP00000363571.4:p.Gly693Arg
ENST00000189978.10:c.1819G>A	ENSP00000189978.6:p.Gly607Arg
ENST00000374440.7:c.1819G>A	ENSP00000363563.4:p.Gly607Arg
ENST00000374448.8:c.2077G>A	ENSP00000363571.4:p.Gly693Arg
ENST00000416899.7:c.2053G>A	ENSP00000393608.3:p.Gly685Arg
NM_001166280.1:c.1819G>A	NP_001159752.1:p.Gly607Arg
NM_001166281.1:c.1789G>A	NP_001159753.1:p.Gly597Arg
NM_005592.3:c.2077G>A	NP_005583.1:p.Gly693Arg
XM_005251994.2:c.2107G>A	XP_005252051.1:p.Gly703Arg
XM_005251995.2:c.2083G>A	XP_005252052.1:p.Gly695Arg
XM_005251996.2:c.2053G>A	XP_005252053.1:p.Gly685Arg
XM_011518707.1:c.2137G>A	XP_011517009.1:p.Gly713Arg
XM_011518708.1:c.841G>A	XP_011517010.1:p.Gly281Arg
XM_005251994.3:c.2107G>A	XP_005252051.1:p.Gly703Arg
XM_005251995.3:c.2083G>A	XP_005252052.1:p.Gly695Arg
XM_005251996.3:c.2053G>A	XP_005252053.1:p.Gly685Arg
XM_011518708.2:c.841G>A	XP_011517010.1:p.Gly281Arg
XM_017014734.1:c.1843G>A	XP_016870223.1:p.Gly615Arg
NM_001166280.2:c.1819G>A	NP_001159752.1:p.Gly607Arg
NM_001166281.2:c.1789G>A	NP_001159753.1:p.Gly597Arg
NM_001369398.1:c.817G>A	NP_001356327.1:p.Gly273Arg
NM_005592.4:c.2077G>A MANE Select	NP_005583.1:p.Gly693Arg