Canonical Allele Identifier: CA374479509

Gene: MUSK

Linked Data

• gnomAD v4: 9-110800753-T-C
• MyVariant Identifiers: chr9:g.113563033T>C (hg19) ; chr9:g.110800753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800753T>C , CM000671.2:g.110800753T>C	GRCh38
NC_000009.11:g.113563033T>C , CM000671.1:g.113563033T>C	GRCh37
NC_000009.10:g.112602854T>C	NCBI36
NG_016016.1:g.136983T>C
NG_016016.2:g.136963T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2375T>C MANE Select	ENSP00000363571.4:p.Leu792Pro
ENST00000189978.10:c.2117T>C	ENSP00000189978.6:p.Leu706Pro
ENST00000374440.7:c.2117T>C	ENSP00000363563.4:p.Leu706Pro
ENST00000374448.8:c.2375T>C	ENSP00000363571.4:p.Leu792Pro
ENST00000416899.7:c.2351T>C	ENSP00000393608.3:p.Leu784Pro
NM_001166280.1:c.2117T>C	NP_001159752.1:p.Leu706Pro
NM_001166281.1:c.2087T>C	NP_001159753.1:p.Leu696Pro
NM_005592.3:c.2375T>C	NP_005583.1:p.Leu792Pro
XM_005251994.2:c.2405T>C	XP_005252051.1:p.Leu802Pro
XM_005251995.2:c.2381T>C	XP_005252052.1:p.Leu794Pro
XM_005251996.2:c.2351T>C	XP_005252053.1:p.Leu784Pro
XM_011518707.1:c.2435T>C	XP_011517009.1:p.Leu812Pro
XM_011518708.1:c.1139T>C	XP_011517010.1:p.Leu380Pro
XM_005251994.3:c.2405T>C	XP_005252051.1:p.Leu802Pro
XM_005251995.3:c.2381T>C	XP_005252052.1:p.Leu794Pro
XM_005251996.3:c.2351T>C	XP_005252053.1:p.Leu784Pro
XM_011518708.2:c.1139T>C	XP_011517010.1:p.Leu380Pro
XM_017014734.1:c.2141T>C	XP_016870223.1:p.Leu714Pro
NM_001166280.2:c.2117T>C	NP_001159752.1:p.Leu706Pro
NM_001166281.2:c.2087T>C	NP_001159753.1:p.Leu696Pro
NM_001369398.1:c.1115T>C	NP_001356327.1:p.Leu372Pro
NM_005592.4:c.2375T>C MANE Select	NP_005583.1:p.Leu792Pro