Canonical Allele Identifier: CA374478162

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800500C>T , CM000671.2:g.110800500C>T	GRCh38
NC_000009.11:g.113562780C>T , CM000671.1:g.113562780C>T	GRCh37
NC_000009.10:g.112602601C>T	NCBI36
NG_016016.1:g.136730C>T
NG_016016.2:g.136710C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.2122C>T MANE Select	NP_005583.1:p.Gln708Ter
ENST00000374448.9:c.2122C>T MANE Select	ENSP00000363571.4:p.Gln708Ter
NM_001166280.1:c.1864C>T	NP_001159752.1:p.Gln622Ter
NM_001166280.2:c.1864C>T	NP_001159752.1:p.Gln622Ter
NM_001166281.1:c.1834C>T	NP_001159753.1:p.Gln612Ter
NM_001166281.2:c.1834C>T	NP_001159753.1:p.Gln612Ter
NM_001369398.1:c.862C>T	NP_001356327.1:p.Gln288Ter
NM_005592.3:c.2122C>T	NP_005583.1:p.Gln708Ter
ENST00000189978.10:c.1864C>T	ENSP00000189978.6:p.Gln622Ter
ENST00000374440.7:c.1864C>T	ENSP00000363563.4:p.Gln622Ter
ENST00000374448.8:c.2122C>T	ENSP00000363571.4:p.Gln708Ter
ENST00000416899.7:c.2098C>T	ENSP00000393608.3:p.Gln700Ter
XM_005251994.2:c.2152C>T	XP_005252051.1:p.Gln718Ter
XM_005251994.3:c.2152C>T	XP_005252051.1:p.Gln718Ter
XM_005251995.2:c.2128C>T	XP_005252052.1:p.Gln710Ter
XM_005251995.3:c.2128C>T	XP_005252052.1:p.Gln710Ter
XM_005251996.2:c.2098C>T	XP_005252053.1:p.Gln700Ter
XM_005251996.3:c.2098C>T	XP_005252053.1:p.Gln700Ter
XM_011518707.1:c.2182C>T	XP_011517009.1:p.Gln728Ter
XM_011518708.1:c.886C>T	XP_011517010.1:p.Gln296Ter
XM_011518708.2:c.886C>T	XP_011517010.1:p.Gln296Ter
XM_017014734.1:c.1888C>T	XP_016870223.1:p.Gln630Ter