Canonical Allele Identifier: CA466900964

Gene: MUSK

Linked Data

• ClinVar Variation Id: 2946681
• ClinVar RCV Id: RCV003808919
• gnomAD v3: 9-110800652-T-G
• gnomAD v4: 9-110800652-T-G
• MyVariant Identifiers: chr9:g.113562932T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800652T>G , CM000671.2:g.110800652T>G	GRCh38
NC_000009.11:g.113562932T>G , CM000671.1:g.113562932T>G	GRCh37
NC_000009.10:g.112602753T>G	NCBI36
NG_016016.1:g.136882T>G
NG_016016.2:g.136862T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2274T>G MANE Select	ENSP00000363571.4:p.Ala758=
ENST00000189978.10:c.2016T>G	ENSP00000189978.6:p.Ala672=
ENST00000374440.7:c.2016T>G	ENSP00000363563.4:p.Ala672=
ENST00000374448.8:c.2274T>G	ENSP00000363571.4:p.Ala758=
ENST00000416899.7:c.2250T>G	ENSP00000393608.3:p.Ala750=
NM_001166280.1:c.2016T>G	NP_001159752.1:p.Ala672=
NM_001166281.1:c.1986T>G	NP_001159753.1:p.Ala662=
NM_005592.3:c.2274T>G	NP_005583.1:p.Ala758=
XM_005251994.2:c.2304T>G	XP_005252051.1:p.Ala768=
XM_005251995.2:c.2280T>G	XP_005252052.1:p.Ala760=
XM_005251996.2:c.2250T>G	XP_005252053.1:p.Ala750=
XM_011518707.1:c.2334T>G	XP_011517009.1:p.Ala778=
XM_011518708.1:c.1038T>G	XP_011517010.1:p.Ala346=
XM_005251994.3:c.2304T>G	XP_005252051.1:p.Ala768=
XM_005251995.3:c.2280T>G	XP_005252052.1:p.Ala760=
XM_005251996.3:c.2250T>G	XP_005252053.1:p.Ala750=
XM_011518708.2:c.1038T>G	XP_011517010.1:p.Ala346=
XM_017014734.1:c.2040T>G	XP_016870223.1:p.Ala680=
NM_001166280.2:c.2016T>G	NP_001159752.1:p.Ala672=
NM_001166281.2:c.1986T>G	NP_001159753.1:p.Ala662=
NM_001369398.1:c.1014T>G	NP_001356327.1:p.Ala338=
NM_005592.4:c.2274T>G MANE Select	NP_005583.1:p.Ala758=