Canonical Allele Identifier: CA466901149

Gene: MUSK

Linked Data

• gnomAD v4: 9-110800745-C-A
• MyVariant Identifiers: chr9:g.113563025C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800745C>A , CM000671.2:g.110800745C>A	GRCh38
NC_000009.11:g.113563025C>A , CM000671.1:g.113563025C>A	GRCh37
NC_000009.10:g.112602846C>A	NCBI36
NG_016016.1:g.136975C>A
NG_016016.2:g.136955C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2367C>A MANE Select	ENSP00000363571.4:p.Gly789=
ENST00000189978.10:c.2109C>A	ENSP00000189978.6:p.Gly703=
ENST00000374440.7:c.2109C>A	ENSP00000363563.4:p.Gly703=
ENST00000374448.8:c.2367C>A	ENSP00000363571.4:p.Gly789=
ENST00000416899.7:c.2343C>A	ENSP00000393608.3:p.Gly781=
NM_001166280.1:c.2109C>A	NP_001159752.1:p.Gly703=
NM_001166281.1:c.2079C>A	NP_001159753.1:p.Gly693=
NM_005592.3:c.2367C>A	NP_005583.1:p.Gly789=
XM_005251994.2:c.2397C>A	XP_005252051.1:p.Gly799=
XM_005251995.2:c.2373C>A	XP_005252052.1:p.Gly791=
XM_005251996.2:c.2343C>A	XP_005252053.1:p.Gly781=
XM_011518707.1:c.2427C>A	XP_011517009.1:p.Gly809=
XM_011518708.1:c.1131C>A	XP_011517010.1:p.Gly377=
XM_005251994.3:c.2397C>A	XP_005252051.1:p.Gly799=
XM_005251995.3:c.2373C>A	XP_005252052.1:p.Gly791=
XM_005251996.3:c.2343C>A	XP_005252053.1:p.Gly781=
XM_011518708.2:c.1131C>A	XP_011517010.1:p.Gly377=
XM_017014734.1:c.2133C>A	XP_016870223.1:p.Gly711=
NM_001166280.2:c.2109C>A	NP_001159752.1:p.Gly703=
NM_001166281.2:c.2079C>A	NP_001159753.1:p.Gly693=
NM_001369398.1:c.1107C>A	NP_001356327.1:p.Gly369=
NM_005592.4:c.2367C>A MANE Select	NP_005583.1:p.Gly789=