Canonical Allele Identifier: CA466901188

Gene: MUSK

Linked Data

• MyVariant Identifiers: chr9:g.113563031C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800751C>G , CM000671.2:g.110800751C>G	GRCh38
NC_000009.11:g.113563031C>G , CM000671.1:g.113563031C>G	GRCh37
NC_000009.10:g.112602852C>G	NCBI36
NG_016016.1:g.136981C>G
NG_016016.2:g.136961C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2373C>G MANE Select	ENSP00000363571.4:p.Val791=
ENST00000189978.10:c.2115C>G	ENSP00000189978.6:p.Val705=
ENST00000374440.7:c.2115C>G	ENSP00000363563.4:p.Val705=
ENST00000374448.8:c.2373C>G	ENSP00000363571.4:p.Val791=
ENST00000416899.7:c.2349C>G	ENSP00000393608.3:p.Val783=
NM_001166280.1:c.2115C>G	NP_001159752.1:p.Val705=
NM_001166281.1:c.2085C>G	NP_001159753.1:p.Val695=
NM_005592.3:c.2373C>G	NP_005583.1:p.Val791=
XM_005251994.2:c.2403C>G	XP_005252051.1:p.Val801=
XM_005251995.2:c.2379C>G	XP_005252052.1:p.Val793=
XM_005251996.2:c.2349C>G	XP_005252053.1:p.Val783=
XM_011518707.1:c.2433C>G	XP_011517009.1:p.Val811=
XM_011518708.1:c.1137C>G	XP_011517010.1:p.Val379=
XM_005251994.3:c.2403C>G	XP_005252051.1:p.Val801=
XM_005251995.3:c.2379C>G	XP_005252052.1:p.Val793=
XM_005251996.3:c.2349C>G	XP_005252053.1:p.Val783=
XM_011518708.2:c.1137C>G	XP_011517010.1:p.Val379=
XM_017014734.1:c.2139C>G	XP_016870223.1:p.Val713=
NM_001166280.2:c.2115C>G	NP_001159752.1:p.Val705=
NM_001166281.2:c.2085C>G	NP_001159753.1:p.Val695=
NM_001369398.1:c.1113C>G	NP_001356327.1:p.Val371=
NM_005592.4:c.2373C>G MANE Select	NP_005583.1:p.Val791=