Canonical Allele Identifier: CA374478931

Gene: MUSK

Linked Data

• MyVariant Identifiers: chr9:g.113562926C>G (hg19) ; chr9:g.110800646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800646C>G , CM000671.2:g.110800646C>G	GRCh38
NC_000009.11:g.113562926C>G , CM000671.1:g.113562926C>G	GRCh37
NC_000009.10:g.112602747C>G	NCBI36
NG_016016.1:g.136876C>G
NG_016016.2:g.136856C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2268C>G MANE Select	ENSP00000363571.4:p.Tyr756Ter
ENST00000189978.10:c.2010C>G	ENSP00000189978.6:p.Tyr670Ter
ENST00000374440.7:c.2010C>G	ENSP00000363563.4:p.Tyr670Ter
ENST00000374448.8:c.2268C>G	ENSP00000363571.4:p.Tyr756Ter
ENST00000416899.7:c.2244C>G	ENSP00000393608.3:p.Tyr748Ter
NM_001166280.1:c.2010C>G	NP_001159752.1:p.Tyr670Ter
NM_001166281.1:c.1980C>G	NP_001159753.1:p.Tyr660Ter
NM_005592.3:c.2268C>G	NP_005583.1:p.Tyr756Ter
XM_005251994.2:c.2298C>G	XP_005252051.1:p.Tyr766Ter
XM_005251995.2:c.2274C>G	XP_005252052.1:p.Tyr758Ter
XM_005251996.2:c.2244C>G	XP_005252053.1:p.Tyr748Ter
XM_011518707.1:c.2328C>G	XP_011517009.1:p.Tyr776Ter
XM_011518708.1:c.1032C>G	XP_011517010.1:p.Tyr344Ter
XM_005251994.3:c.2298C>G	XP_005252051.1:p.Tyr766Ter
XM_005251995.3:c.2274C>G	XP_005252052.1:p.Tyr758Ter
XM_005251996.3:c.2244C>G	XP_005252053.1:p.Tyr748Ter
XM_011518708.2:c.1032C>G	XP_011517010.1:p.Tyr344Ter
XM_017014734.1:c.2034C>G	XP_016870223.1:p.Tyr678Ter
NM_001166280.2:c.2010C>G	NP_001159752.1:p.Tyr670Ter
NM_001166281.2:c.1980C>G	NP_001159753.1:p.Tyr660Ter
NM_001369398.1:c.1008C>G	NP_001356327.1:p.Tyr336Ter
NM_005592.4:c.2268C>G MANE Select	NP_005583.1:p.Tyr756Ter