Canonical Allele Identifier: CA5183943

Gene: MUSK

Linked Data

• ClinVar Variation Id: 259807
• ClinVar RCV Id: RCV000241893 ; RCV001668513
• dbSNP Id: rs75001517
• ExAC: 9:113445108 A / T
• gnomAD v2: 9-113445108-A-T
• gnomAD v3: 9-110682828-A-T
• gnomAD v4: 9-110682828-A-T
• MyVariant Identifiers: chr9:g.113445108A>T (hg19) ; chr9:g.110682828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110682828A>T , CM000671.2:g.110682828A>T	GRCh38
NC_000009.11:g.113445108A>T , CM000671.1:g.113445108A>T	GRCh37
NC_000009.10:g.112484929A>T	NCBI36
NG_016016.1:g.19058A>T
NG_016016.2:g.19038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.206+28A>T MANE Select	ENSP00000363571.4:n.206+28A>T
ENST00000189978.10:c.206+28A>T	ENSP00000189978.6:n.206+28A>T
ENST00000374440.7:c.206+28A>T	ENSP00000363563.4:n.206+28A>T
ENST00000374448.8:c.206+28A>T	ENSP00000363571.4:n.206+28A>T
ENST00000416899.7:c.206+28A>T	ENSP00000393608.3:n.206+28A>T
NM_001166280.1:c.206+28A>T	NP_001159752.1:n.206+28A>T
NM_001166281.1:c.206+28A>T	NP_001159753.1:n.206+28A>T
NM_005592.3:c.206+28A>T	NP_005583.1:n.206+28A>T
XM_005251994.2:c.206+28A>T	XP_005252051.1:n.206+28A>T
XM_005251995.2:c.206+28A>T	XP_005252052.1:n.206+28A>T
XM_005251996.2:c.206+28A>T	XP_005252053.1:n.206+28A>T
XM_011518707.1:c.206+28A>T	XP_011517009.1:n.206+28A>T
XM_005251994.3:c.206+28A>T	XP_005252051.1:n.206+28A>T
XM_005251995.3:c.206+28A>T	XP_005252052.1:n.206+28A>T
XM_005251996.3:c.206+28A>T	XP_005252053.1:n.206+28A>T
XM_017014734.1:c.206+28A>T	XP_016870223.1:n.206+28A>T
NM_001166280.2:c.206+28A>T	NP_001159752.1:n.206+28A>T
NM_001166281.2:c.206+28A>T	NP_001159753.1:n.206+28A>T
NM_005592.4:c.206+28A>T MANE Select	NP_005583.1:n.206+28A>T