Canonical Allele Identifier: CA374665252
Gene: MUSK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.110695525C>T
GRCh37 chr9:g.113457805C>T
Revel Score:
ENST00000189978 0.382
ENST00000374448 (MANE Select) 0.382
ENST00000543335 0.382
ENST00000374447 0.382
ENST00000545907 0.382
ENST00000374440 0.382
ENST00000416899 0.382
ENST00000374439 0.382
gnomAD v2:
9:113457805 C / T
gnomAD v3:
9:110695525 C / T
gnomAD v4:
chr9-110695525-C-T
Joint Max Group AF 0.00031936 (AMR)
Genomes Max Group AF 0.00005287 (AMR)
Exomes Max Group AF 0.00038518 (AMR)
ClinVar RCV:
RCV000550759
RCV003129918
ClinVar Variation:
476146
dbSNP:
1311636142
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110695525C>T , CM000671.2:g.110695525C>T GRCh38
NC_000009.11:g.113457805C>T , CM000671.1:g.113457805C>T GRCh37
NC_000009.10:g.112497626C>T NCBI36
NG_016016.1:g.31755C>T
NG_016016.2:g.31735C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374448.9:c.481C>T MANE Select ENSP00000363571.4:p.Leu161Phe
ENST00000189978.10:c.481C>T ENSP00000189978.6:p.Leu161Phe
ENST00000374439.1:c.175C>T ENSP00000363562.2:p.Leu59Phe
ENST00000374440.7:c.481C>T ENSP00000363563.4:p.Leu161Phe
ENST00000374448.8:c.481C>T ENSP00000363571.4:p.Leu161Phe
ENST00000416899.7:c.481C>T ENSP00000393608.3:p.Leu161Phe
NM_001166280.1:c.481C>T NP_001159752.1:p.Leu161Phe
NM_001166281.1:c.481C>T NP_001159753.1:p.Leu161Phe
NM_005592.3:c.481C>T NP_005583.1:p.Leu161Phe
XM_005251994.2:c.481C>T XP_005252051.1:p.Leu161Phe
XM_005251995.2:c.481C>T XP_005252052.1:p.Leu161Phe
XM_005251996.2:c.481C>T XP_005252053.1:p.Leu161Phe
XM_011518707.1:c.481C>T XP_011517009.1:p.Leu161Phe
XM_005251994.3:c.481C>T XP_005252051.1:p.Leu161Phe
XM_005251995.3:c.481C>T XP_005252052.1:p.Leu161Phe
XM_005251996.3:c.481C>T XP_005252053.1:p.Leu161Phe
XM_017014734.1:c.481C>T XP_016870223.1:p.Leu161Phe
NM_001166280.2:c.481C>T NP_001159752.1:p.Leu161Phe
NM_001166281.2:c.481C>T NP_001159753.1:p.Leu161Phe
NM_005592.4:c.481C>T MANE Select NP_005583.1:p.Leu161Phe
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