Canonical Allele Identifier: CA374478388

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800543T>C , CM000671.2:g.110800543T>C	GRCh38
NC_000009.11:g.113562823T>C , CM000671.1:g.113562823T>C	GRCh37
NC_000009.10:g.112602644T>C	NCBI36
NG_016016.1:g.136773T>C
NG_016016.2:g.136753T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.2165T>C MANE Select	NP_005583.1:p.Val722Ala
ENST00000374448.9:c.2165T>C MANE Select	ENSP00000363571.4:p.Val722Ala
NM_001166280.1:c.1907T>C	NP_001159752.1:p.Val636Ala
NM_001166280.2:c.1907T>C	NP_001159752.1:p.Val636Ala
NM_001166281.1:c.1877T>C	NP_001159753.1:p.Val626Ala
NM_001166281.2:c.1877T>C	NP_001159753.1:p.Val626Ala
NM_001369398.1:c.905T>C	NP_001356327.1:p.Val302Ala
NM_005592.3:c.2165T>C	NP_005583.1:p.Val722Ala
ENST00000189978.10:c.1907T>C	ENSP00000189978.6:p.Val636Ala
ENST00000374440.7:c.1907T>C	ENSP00000363563.4:p.Val636Ala
ENST00000374448.8:c.2165T>C	ENSP00000363571.4:p.Val722Ala
ENST00000416899.7:c.2141T>C	ENSP00000393608.3:p.Val714Ala
XM_005251994.2:c.2195T>C	XP_005252051.1:p.Val732Ala
XM_005251994.3:c.2195T>C	XP_005252051.1:p.Val732Ala
XM_005251995.2:c.2171T>C	XP_005252052.1:p.Val724Ala
XM_005251995.3:c.2171T>C	XP_005252052.1:p.Val724Ala
XM_005251996.2:c.2141T>C	XP_005252053.1:p.Val714Ala
XM_005251996.3:c.2141T>C	XP_005252053.1:p.Val714Ala
XM_011518707.1:c.2225T>C	XP_011517009.1:p.Val742Ala
XM_011518708.1:c.929T>C	XP_011517010.1:p.Val310Ala
XM_011518708.2:c.929T>C	XP_011517010.1:p.Val310Ala
XM_017014734.1:c.1931T>C	XP_016870223.1:p.Val644Ala