Canonical Allele Identifier: CA374479779

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800824C>T , CM000671.2:g.110800824C>T	GRCh38
NC_000009.11:g.113563104C>T , CM000671.1:g.113563104C>T	GRCh37
NC_000009.10:g.112602925C>T	NCBI36
NG_016016.1:g.137054C>T
NG_016016.2:g.137034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.2446C>T MANE Select	ENSP00000363571.4:p.Arg816Ter
ENST00000189978.10:c.2188C>T	ENSP00000189978.6:p.Arg730Ter
ENST00000374440.7:c.2188C>T	ENSP00000363563.4:p.Arg730Ter
ENST00000374448.8:c.2446C>T	ENSP00000363571.4:p.Arg816Ter
ENST00000416899.7:c.2422C>T	ENSP00000393608.3:p.Arg808Ter
NM_001166280.1:c.2188C>T	NP_001159752.1:p.Arg730Ter
NM_001166281.1:c.2158C>T	NP_001159753.1:p.Arg720Ter
NM_005592.3:c.2446C>T	NP_005583.1:p.Arg816Ter
XM_005251994.2:c.2476C>T	XP_005252051.1:p.Arg826Ter
XM_005251995.2:c.2452C>T	XP_005252052.1:p.Arg818Ter
XM_005251996.2:c.2422C>T	XP_005252053.1:p.Arg808Ter
XM_011518707.1:c.2506C>T	XP_011517009.1:p.Arg836Ter
XM_011518708.1:c.1210C>T	XP_011517010.1:p.Arg404Ter
XM_005251994.3:c.2476C>T	XP_005252051.1:p.Arg826Ter
XM_005251995.3:c.2452C>T	XP_005252052.1:p.Arg818Ter
XM_005251996.3:c.2422C>T	XP_005252053.1:p.Arg808Ter
XM_011518708.2:c.1210C>T	XP_011517010.1:p.Arg404Ter
XM_017014734.1:c.2212C>T	XP_016870223.1:p.Arg738Ter
NM_001166280.2:c.2188C>T	NP_001159752.1:p.Arg730Ter
NM_001166281.2:c.2158C>T	NP_001159753.1:p.Arg720Ter
NM_001369398.1:c.1186C>T	NP_001356327.1:p.Arg396Ter
NM_005592.4:c.2446C>T MANE Select	NP_005583.1:p.Arg816Ter