Canonical Allele Identifier: CA5184534

Gene: MUSK

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800309T>C , CM000671.2:g.110800309T>C	GRCh38
NC_000009.11:g.113562589T>C , CM000671.1:g.113562589T>C	GRCh37
NC_000009.10:g.112602410T>C	NCBI36
NG_016016.1:g.136539T>C
NG_016016.2:g.136519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1931T>C MANE Select	ENSP00000363571.4:p.Val644Ala
ENST00000189978.10:c.1673T>C	ENSP00000189978.6:p.Val558Ala
ENST00000374440.7:c.1673T>C	ENSP00000363563.4:p.Val558Ala
ENST00000374448.8:c.1931T>C	ENSP00000363571.4:p.Val644Ala
ENST00000416899.7:c.1907T>C	ENSP00000393608.3:p.Val636Ala
NM_001166280.1:c.1673T>C	NP_001159752.1:p.Val558Ala
NM_001166281.1:c.1643T>C	NP_001159753.1:p.Val548Ala
NM_005592.3:c.1931T>C	NP_005583.1:p.Val644Ala
XM_005251994.2:c.1961T>C	XP_005252051.1:p.Val654Ala
XM_005251995.2:c.1937T>C	XP_005252052.1:p.Val646Ala
XM_005251996.2:c.1907T>C	XP_005252053.1:p.Val636Ala
XM_011518707.1:c.1991T>C	XP_011517009.1:p.Val664Ala
XM_011518708.1:c.695T>C	XP_011517010.1:p.Val232Ala
XM_005251994.3:c.1961T>C	XP_005252051.1:p.Val654Ala
XM_005251995.3:c.1937T>C	XP_005252052.1:p.Val646Ala
XM_005251996.3:c.1907T>C	XP_005252053.1:p.Val636Ala
XM_011518708.2:c.695T>C	XP_011517010.1:p.Val232Ala
XM_017014734.1:c.1697T>C	XP_016870223.1:p.Val566Ala
NM_001166280.2:c.1673T>C	NP_001159752.1:p.Val558Ala
NM_001166281.2:c.1643T>C	NP_001159753.1:p.Val548Ala
NM_001369398.1:c.671T>C	NP_001356327.1:p.Val224Ala
NM_005592.4:c.1931T>C MANE Select	NP_005583.1:p.Val644Ala