Canonical Allele Identifier: CA374478924

Gene: MUSK

Linked Data

• MyVariant Identifiers: chr9:g.113562925A>T (hg19) ; chr9:g.110800645A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800645A>T , CM000671.2:g.110800645A>T	GRCh38
NC_000009.11:g.113562925A>T , CM000671.1:g.113562925A>T	GRCh37
NC_000009.10:g.112602746A>T	NCBI36
NG_016016.1:g.136875A>T
NG_016016.2:g.136855A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2267A>T MANE Select	ENSP00000363571.4:p.Tyr756Phe
ENST00000189978.10:c.2009A>T	ENSP00000189978.6:p.Tyr670Phe
ENST00000374440.7:c.2009A>T	ENSP00000363563.4:p.Tyr670Phe
ENST00000374448.8:c.2267A>T	ENSP00000363571.4:p.Tyr756Phe
ENST00000416899.7:c.2243A>T	ENSP00000393608.3:p.Tyr748Phe
NM_001166280.1:c.2009A>T	NP_001159752.1:p.Tyr670Phe
NM_001166281.1:c.1979A>T	NP_001159753.1:p.Tyr660Phe
NM_005592.3:c.2267A>T	NP_005583.1:p.Tyr756Phe
XM_005251994.2:c.2297A>T	XP_005252051.1:p.Tyr766Phe
XM_005251995.2:c.2273A>T	XP_005252052.1:p.Tyr758Phe
XM_005251996.2:c.2243A>T	XP_005252053.1:p.Tyr748Phe
XM_011518707.1:c.2327A>T	XP_011517009.1:p.Tyr776Phe
XM_011518708.1:c.1031A>T	XP_011517010.1:p.Tyr344Phe
XM_005251994.3:c.2297A>T	XP_005252051.1:p.Tyr766Phe
XM_005251995.3:c.2273A>T	XP_005252052.1:p.Tyr758Phe
XM_005251996.3:c.2243A>T	XP_005252053.1:p.Tyr748Phe
XM_011518708.2:c.1031A>T	XP_011517010.1:p.Tyr344Phe
XM_017014734.1:c.2033A>T	XP_016870223.1:p.Tyr678Phe
NM_001166280.2:c.2009A>T	NP_001159752.1:p.Tyr670Phe
NM_001166281.2:c.1979A>T	NP_001159753.1:p.Tyr660Phe
NM_001369398.1:c.1007A>T	NP_001356327.1:p.Tyr336Phe
NM_005592.4:c.2267A>T MANE Select	NP_005583.1:p.Tyr756Phe