Canonical Allele Identifier: CA198358788

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110787477T>C , CM000671.2:g.110787477T>C	GRCh38
NC_000009.11:g.113549757T>C , CM000671.1:g.113549757T>C	GRCh37
NC_000009.10:g.112589578T>C	NCBI36
NG_016016.1:g.123707T>C
NG_016016.2:g.123687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1779-213T>C MANE Select	ENSP00000363571.4:n.1779-213T>C
ENST00000189978.10:c.1521-213T>C	ENSP00000189978.6:n.1521-213T>C
ENST00000374438.1:n.810-213T>C
ENST00000374440.7:c.1521-213T>C	ENSP00000363563.4:n.1521-213T>C
ENST00000374448.8:c.1779-213T>C	ENSP00000363571.4:n.1779-213T>C
ENST00000416899.7:c.1755-213T>C	ENSP00000393608.3:n.1755-213T>C
NM_001166280.1:c.1521-213T>C	NP_001159752.1:n.1521-213T>C
NM_001166281.1:c.1491-213T>C	NP_001159753.1:n.1491-213T>C
NM_005592.3:c.1779-213T>C	NP_005583.1:n.1779-213T>C
XM_005251994.2:c.1809-213T>C	XP_005252051.1:n.1809-213T>C
XM_005251995.2:c.1785-213T>C	XP_005252052.1:n.1785-213T>C
XM_005251996.2:c.1755-213T>C	XP_005252053.1:n.1755-213T>C
XM_011518707.1:c.1839-213T>C	XP_011517009.1:n.1839-213T>C
XM_011518708.1:c.543-213T>C	XP_011517010.1:n.543-213T>C
XM_005251994.3:c.1809-213T>C	XP_005252051.1:n.1809-213T>C
XM_005251995.3:c.1785-213T>C	XP_005252052.1:n.1785-213T>C
XM_005251996.3:c.1755-213T>C	XP_005252053.1:n.1755-213T>C
XM_011518708.2:c.543-213T>C	XP_011517010.1:n.543-213T>C
XM_017014734.1:c.1545-213T>C	XP_016870223.1:n.1545-213T>C
NM_001166280.2:c.1521-213T>C	NP_001159752.1:n.1521-213T>C
NM_001166281.2:c.1491-213T>C	NP_001159753.1:n.1491-213T>C
NM_001369398.1:c.519-213T>C	NP_001356327.1:n.519-213T>C
NM_005592.4:c.1779-213T>C MANE Select	NP_005583.1:n.1779-213T>C