Canonical Allele Identifier: CA374478920

Gene: MUSK

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2267A>C MANE Select	ENSP00000363571.4:p.Tyr756Ser
ENST00000189978.10:c.2009A>C	ENSP00000189978.6:p.Tyr670Ser
ENST00000374440.7:c.2009A>C	ENSP00000363563.4:p.Tyr670Ser
ENST00000374448.8:c.2267A>C	ENSP00000363571.4:p.Tyr756Ser
ENST00000416899.7:c.2243A>C	ENSP00000393608.3:p.Tyr748Ser
NM_001166280.1:c.2009A>C	NP_001159752.1:p.Tyr670Ser
NM_001166281.1:c.1979A>C	NP_001159753.1:p.Tyr660Ser
NM_005592.3:c.2267A>C	NP_005583.1:p.Tyr756Ser
XM_005251994.2:c.2297A>C	XP_005252051.1:p.Tyr766Ser
XM_005251995.2:c.2273A>C	XP_005252052.1:p.Tyr758Ser
XM_005251996.2:c.2243A>C	XP_005252053.1:p.Tyr748Ser
XM_011518707.1:c.2327A>C	XP_011517009.1:p.Tyr776Ser
XM_011518708.1:c.1031A>C	XP_011517010.1:p.Tyr344Ser
XM_005251994.3:c.2297A>C	XP_005252051.1:p.Tyr766Ser
XM_005251995.3:c.2273A>C	XP_005252052.1:p.Tyr758Ser
XM_005251996.3:c.2243A>C	XP_005252053.1:p.Tyr748Ser
XM_011518708.2:c.1031A>C	XP_011517010.1:p.Tyr344Ser
XM_017014734.1:c.2033A>C	XP_016870223.1:p.Tyr678Ser
NM_001166280.2:c.2009A>C	NP_001159752.1:p.Tyr670Ser
NM_001166281.2:c.1979A>C	NP_001159753.1:p.Tyr660Ser
NM_001369398.1:c.1007A>C	NP_001356327.1:p.Tyr336Ser
NM_005592.4:c.2267A>C MANE Select	NP_005583.1:p.Tyr756Ser