Canonical Allele Identifier: CA374479502

Gene: MUSK

Linked Data

• MyVariant Identifiers: chr9:g.113563032C>A (hg19) ; chr9:g.110800752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800752C>A , CM000671.2:g.110800752C>A	GRCh38
NC_000009.11:g.113563032C>A , CM000671.1:g.113563032C>A	GRCh37
NC_000009.10:g.112602853C>A	NCBI36
NG_016016.1:g.136982C>A
NG_016016.2:g.136962C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2374C>A MANE Select	ENSP00000363571.4:p.Leu792Ile
ENST00000189978.10:c.2116C>A	ENSP00000189978.6:p.Leu706Ile
ENST00000374440.7:c.2116C>A	ENSP00000363563.4:p.Leu706Ile
ENST00000374448.8:c.2374C>A	ENSP00000363571.4:p.Leu792Ile
ENST00000416899.7:c.2350C>A	ENSP00000393608.3:p.Leu784Ile
NM_001166280.1:c.2116C>A	NP_001159752.1:p.Leu706Ile
NM_001166281.1:c.2086C>A	NP_001159753.1:p.Leu696Ile
NM_005592.3:c.2374C>A	NP_005583.1:p.Leu792Ile
XM_005251994.2:c.2404C>A	XP_005252051.1:p.Leu802Ile
XM_005251995.2:c.2380C>A	XP_005252052.1:p.Leu794Ile
XM_005251996.2:c.2350C>A	XP_005252053.1:p.Leu784Ile
XM_011518707.1:c.2434C>A	XP_011517009.1:p.Leu812Ile
XM_011518708.1:c.1138C>A	XP_011517010.1:p.Leu380Ile
XM_005251994.3:c.2404C>A	XP_005252051.1:p.Leu802Ile
XM_005251995.3:c.2380C>A	XP_005252052.1:p.Leu794Ile
XM_005251996.3:c.2350C>A	XP_005252053.1:p.Leu784Ile
XM_011518708.2:c.1138C>A	XP_011517010.1:p.Leu380Ile
XM_017014734.1:c.2140C>A	XP_016870223.1:p.Leu714Ile
NM_001166280.2:c.2116C>A	NP_001159752.1:p.Leu706Ile
NM_001166281.2:c.2086C>A	NP_001159753.1:p.Leu696Ile
NM_001369398.1:c.1114C>A	NP_001356327.1:p.Leu372Ile
NM_005592.4:c.2374C>A MANE Select	NP_005583.1:p.Leu792Ile