Canonical Allele Identifier: CA10628797

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110747667T>C , CM000671.2:g.110747667T>C	GRCh38
NC_000009.11:g.113509947T>C , CM000671.1:g.113509947T>C	GRCh37
NC_000009.10:g.112549768T>C	NCBI36
NG_016016.1:g.83897T>C
NG_016016.2:g.83877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.780T>C MANE Select	ENSP00000363571.4:p.Ser260=
ENST00000189978.10:c.810T>C	ENSP00000189978.6:p.Ser270=
ENST00000374440.7:c.810T>C	ENSP00000363563.4:p.Ser270=
ENST00000374448.8:c.780T>C	ENSP00000363571.4:p.Ser260=
ENST00000416899.7:c.780T>C	ENSP00000393608.3:p.Ser260=
ENST00000634612.1:n.202T>C
NM_001166280.1:c.810T>C	NP_001159752.1:p.Ser270=
NM_001166281.1:c.780T>C	NP_001159753.1:p.Ser260=
NM_005592.3:c.780T>C	NP_005583.1:p.Ser260=
XM_005251994.2:c.810T>C	XP_005252051.1:p.Ser270=
XM_005251995.2:c.810T>C	XP_005252052.1:p.Ser270=
XM_005251996.2:c.780T>C	XP_005252053.1:p.Ser260=
XM_011518707.1:c.840T>C	XP_011517009.1:p.Ser280=
XM_005251994.3:c.810T>C	XP_005252051.1:p.Ser270=
XM_005251995.3:c.810T>C	XP_005252052.1:p.Ser270=
XM_005251996.3:c.780T>C	XP_005252053.1:p.Ser260=
XM_017014734.1:c.810T>C	XP_016870223.1:p.Ser270=
NM_001166280.2:c.810T>C	NP_001159752.1:p.Ser270=
NM_001166281.2:c.780T>C	NP_001159753.1:p.Ser260=
NM_001369398.1:c.-457T>C	NP_001356327.1:n.-457T>C
NM_005592.4:c.780T>C MANE Select	NP_005583.1:p.Ser260=