Canonical Allele Identifier: CA374475592

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785017G>A , CM000671.2:g.110785017G>A	GRCh38
NC_000009.11:g.113547297G>A , CM000671.1:g.113547297G>A	GRCh37
NC_000009.10:g.112587118G>A	NCBI36
NG_016016.1:g.121247G>A
NG_016016.2:g.121227G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1586+1G>A MANE Select	NP_005583.1:n.1586+1G>A
ENST00000374448.9:c.1586+1G>A MANE Select	ENSP00000363571.4:n.1586+1G>A
NM_001166280.1:c.1328+1G>A	NP_001159752.1:n.1328+1G>A
NM_001166280.2:c.1328+1G>A	NP_001159752.1:n.1328+1G>A
NM_001166281.1:c.1298+1G>A	NP_001159753.1:n.1298+1G>A
NM_001166281.2:c.1298+1G>A	NP_001159753.1:n.1298+1G>A
NM_001369398.1:c.326+1G>A	NP_001356327.1:n.326+1G>A
NM_005592.3:c.1586+1G>A	NP_005583.1:n.1586+1G>A
ENST00000189978.10:c.1328+1G>A	ENSP00000189978.6:n.1328+1G>A
ENST00000374438.1:n.618-510G>A
ENST00000374440.7:c.1328+1G>A	ENSP00000363563.4:n.1328+1G>A
ENST00000374448.8:c.1586+1G>A	ENSP00000363571.4:n.1586+1G>A
ENST00000416899.7:c.1562+1G>A	ENSP00000393608.3:n.1562+1G>A
XM_005251994.2:c.1616+1G>A	XP_005252051.1:n.1616+1G>A
XM_005251994.3:c.1616+1G>A	XP_005252051.1:n.1616+1G>A
XM_005251995.2:c.1592+1G>A	XP_005252052.1:n.1592+1G>A
XM_005251995.3:c.1592+1G>A	XP_005252052.1:n.1592+1G>A
XM_005251996.2:c.1562+1G>A	XP_005252053.1:n.1562+1G>A
XM_005251996.3:c.1562+1G>A	XP_005252053.1:n.1562+1G>A
XM_011518707.1:c.1646+1G>A	XP_011517009.1:n.1646+1G>A
XM_011518708.1:c.350+1G>A	XP_011517010.1:n.350+1G>A
XM_011518708.2:c.350+1G>A	XP_011517010.1:n.350+1G>A
XM_017014734.1:c.1352+1G>A	XP_016870223.1:n.1352+1G>A
XR_001746892.1:n.121-37C>T