Canonical Allele Identifier: CA5184539

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800329A>C , CM000671.2:g.110800329A>C	GRCh38
NC_000009.11:g.113562609A>C , CM000671.1:g.113562609A>C	GRCh37
NC_000009.10:g.112602430A>C	NCBI36
NG_016016.1:g.136559A>C
NG_016016.2:g.136539A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1951A>C MANE Select	NP_005583.1:p.Met651Leu
ENST00000374448.9:c.1951A>C MANE Select	ENSP00000363571.4:p.Met651Leu
NM_001166280.1:c.1693A>C	NP_001159752.1:p.Met565Leu
NM_001166280.2:c.1693A>C	NP_001159752.1:p.Met565Leu
NM_001166281.1:c.1663A>C	NP_001159753.1:p.Met555Leu
NM_001166281.2:c.1663A>C	NP_001159753.1:p.Met555Leu
NM_001369398.1:c.691A>C	NP_001356327.1:p.Met231Leu
NM_005592.3:c.1951A>C	NP_005583.1:p.Met651Leu
ENST00000189978.10:c.1693A>C	ENSP00000189978.6:p.Met565Leu
ENST00000374440.7:c.1693A>C	ENSP00000363563.4:p.Met565Leu
ENST00000374448.8:c.1951A>C	ENSP00000363571.4:p.Met651Leu
ENST00000416899.7:c.1927A>C	ENSP00000393608.3:p.Met643Leu
XM_005251994.2:c.1981A>C	XP_005252051.1:p.Met661Leu
XM_005251994.3:c.1981A>C	XP_005252051.1:p.Met661Leu
XM_005251995.2:c.1957A>C	XP_005252052.1:p.Met653Leu
XM_005251995.3:c.1957A>C	XP_005252052.1:p.Met653Leu
XM_005251996.2:c.1927A>C	XP_005252053.1:p.Met643Leu
XM_005251996.3:c.1927A>C	XP_005252053.1:p.Met643Leu
XM_011518707.1:c.2011A>C	XP_011517009.1:p.Met671Leu
XM_011518708.1:c.715A>C	XP_011517010.1:p.Met239Leu
XM_011518708.2:c.715A>C	XP_011517010.1:p.Met239Leu
XM_017014734.1:c.1717A>C	XP_016870223.1:p.Met573Leu