Canonical Allele Identifier: CA374478964

Gene: MUSK

Linked Data

• dbSNP Id: rs1758766116
• gnomAD v4: 9-110800651-C-A
• MyVariant Identifiers: chr9:g.113562931C>A (hg19) ; chr9:g.110800651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800651C>A , CM000671.2:g.110800651C>A	GRCh38
NC_000009.11:g.113562931C>A , CM000671.1:g.113562931C>A	GRCh37
NC_000009.10:g.112602752C>A	NCBI36
NG_016016.1:g.136881C>A
NG_016016.2:g.136861C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2273C>A MANE Select	ENSP00000363571.4:p.Ala758Asp
ENST00000189978.10:c.2015C>A	ENSP00000189978.6:p.Ala672Asp
ENST00000374440.7:c.2015C>A	ENSP00000363563.4:p.Ala672Asp
ENST00000374448.8:c.2273C>A	ENSP00000363571.4:p.Ala758Asp
ENST00000416899.7:c.2249C>A	ENSP00000393608.3:p.Ala750Asp
NM_001166280.1:c.2015C>A	NP_001159752.1:p.Ala672Asp
NM_001166281.1:c.1985C>A	NP_001159753.1:p.Ala662Asp
NM_005592.3:c.2273C>A	NP_005583.1:p.Ala758Asp
XM_005251994.2:c.2303C>A	XP_005252051.1:p.Ala768Asp
XM_005251995.2:c.2279C>A	XP_005252052.1:p.Ala760Asp
XM_005251996.2:c.2249C>A	XP_005252053.1:p.Ala750Asp
XM_011518707.1:c.2333C>A	XP_011517009.1:p.Ala778Asp
XM_011518708.1:c.1037C>A	XP_011517010.1:p.Ala346Asp
XM_005251994.3:c.2303C>A	XP_005252051.1:p.Ala768Asp
XM_005251995.3:c.2279C>A	XP_005252052.1:p.Ala760Asp
XM_005251996.3:c.2249C>A	XP_005252053.1:p.Ala750Asp
XM_011518708.2:c.1037C>A	XP_011517010.1:p.Ala346Asp
XM_017014734.1:c.2039C>A	XP_016870223.1:p.Ala680Asp
NM_001166280.2:c.2015C>A	NP_001159752.1:p.Ala672Asp
NM_001166281.2:c.1985C>A	NP_001159753.1:p.Ala662Asp
NM_001369398.1:c.1013C>A	NP_001356327.1:p.Ala338Asp
NM_005592.4:c.2273C>A MANE Select	NP_005583.1:p.Ala758Asp