Canonical Allele Identifier: CA153743
Gene: MUSK HGNC NCBI

Linked Data

ClinVar Variation Id: 129634
ClinVar RCV Id: RCV000117646 RCV000278210 RCV000536711
dbSNP Id: rs35142681
ExAC: 9:113449489 C / T
gnomAD v2: 9-113449489-C-T
gnomAD v3: 9-110687209-C-T
gnomAD v4: 9-110687209-C-T
MyVariant Identifiers: chr9:g.113449489C>T (hg19) chr9:g.110687209C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110687209C>T , CM000671.2:g.110687209C>T GRCh38
NC_000009.11:g.113449489C>T , CM000671.1:g.113449489C>T GRCh37
NC_000009.10:g.112489310C>T NCBI36
NG_016016.1:g.23439C>T
NG_016016.2:g.23419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374448.9:c.299C>T MANE Select ENSP00000363571.4:p.Thr100Met
ENST00000189978.10:c.299C>T ENSP00000189978.6:p.Thr100Met
ENST00000374440.7:c.299C>T ENSP00000363563.4:p.Thr100Met
ENST00000374448.8:c.299C>T ENSP00000363571.4:p.Thr100Met
ENST00000416899.7:c.299C>T ENSP00000393608.3:p.Thr100Met
NM_001166280.1:c.299C>T NP_001159752.1:p.Thr100Met
NM_001166281.1:c.299C>T NP_001159753.1:p.Thr100Met
NM_005592.3:c.299C>T NP_005583.1:p.Thr100Met
XM_005251994.2:c.299C>T XP_005252051.1:p.Thr100Met
XM_005251995.2:c.299C>T XP_005252052.1:p.Thr100Met
XM_005251996.2:c.299C>T XP_005252053.1:p.Thr100Met
XM_011518707.1:c.299C>T XP_011517009.1:p.Thr100Met
XM_005251994.3:c.299C>T XP_005252051.1:p.Thr100Met
XM_005251995.3:c.299C>T XP_005252052.1:p.Thr100Met
XM_005251996.3:c.299C>T XP_005252053.1:p.Thr100Met
XM_017014734.1:c.299C>T XP_016870223.1:p.Thr100Met
NM_001166280.2:c.299C>T NP_001159752.1:p.Thr100Met
NM_001166281.2:c.299C>T NP_001159753.1:p.Thr100Met
NM_005592.4:c.299C>T MANE Select NP_005583.1:p.Thr100Met
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