Canonical Allele Identifier: CA5184433

Gene: MUSK

Linked Data

• ClinVar Variation Id: 259802
• ClinVar RCV Id: RCV000246294 ; RCV000537953 ; RCV001166934
• dbSNP Id: rs373118888
• ExAC: 9:113547939 T / C
• gnomAD v2: 9-113547939-T-C
• gnomAD v3: 9-110785659-T-C
• gnomAD v4: 9-110785659-T-C
• MyVariant Identifiers: chr9:g.113547939T>C (hg19) ; chr9:g.110785659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785659T>C , CM000671.2:g.110785659T>C	GRCh38
NC_000009.11:g.113547939T>C , CM000671.1:g.113547939T>C	GRCh37
NC_000009.10:g.112587760T>C	NCBI36
NG_016016.1:g.121889T>C
NG_016016.2:g.121869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.1719T>C MANE Select	ENSP00000363571.4:p.Asn573=
ENST00000189978.10:c.1461T>C	ENSP00000189978.6:p.Asn487=
ENST00000374438.1:n.750T>C
ENST00000374440.7:c.1461T>C	ENSP00000363563.4:p.Asn487=
ENST00000374448.8:c.1719T>C	ENSP00000363571.4:p.Asn573=
ENST00000416899.7:c.1695T>C	ENSP00000393608.3:p.Asn565=
NM_001166280.1:c.1461T>C	NP_001159752.1:p.Asn487=
NM_001166281.1:c.1431T>C	NP_001159753.1:p.Asn477=
NM_005592.3:c.1719T>C	NP_005583.1:p.Asn573=
XM_005251994.2:c.1749T>C	XP_005252051.1:p.Asn583=
XM_005251995.2:c.1725T>C	XP_005252052.1:p.Asn575=
XM_005251996.2:c.1695T>C	XP_005252053.1:p.Asn565=
XM_011518707.1:c.1779T>C	XP_011517009.1:p.Asn593=
XM_011518708.1:c.483T>C	XP_011517010.1:p.Asn161=
XM_005251994.3:c.1749T>C	XP_005252051.1:p.Asn583=
XM_005251995.3:c.1725T>C	XP_005252052.1:p.Asn575=
XM_005251996.3:c.1695T>C	XP_005252053.1:p.Asn565=
XM_011518708.2:c.483T>C	XP_011517010.1:p.Asn161=
XM_017014734.1:c.1485T>C	XP_016870223.1:p.Asn495=
XR_001746892.1:n.64A>G
NM_001166280.2:c.1461T>C	NP_001159752.1:p.Asn487=
NM_001166281.2:c.1431T>C	NP_001159753.1:p.Asn477=
NM_001369398.1:c.459T>C	NP_001356327.1:p.Asn153=
NM_005592.4:c.1719T>C MANE Select	NP_005583.1:p.Asn573=