Canonical Allele Identifier: CA374478944

Gene: MUSK

Linked Data

• MyVariant Identifiers: chr9:g.113562928A>T (hg19) ; chr9:g.110800648A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110800648A>T , CM000671.2:g.110800648A>T	GRCh38
NC_000009.11:g.113562928A>T , CM000671.1:g.113562928A>T	GRCh37
NC_000009.10:g.112602749A>T	NCBI36
NG_016016.1:g.136878A>T
NG_016016.2:g.136858A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374448.9:c.2270A>T MANE Select	ENSP00000363571.4:p.Lys757Ile
ENST00000189978.10:c.2012A>T	ENSP00000189978.6:p.Lys671Ile
ENST00000374440.7:c.2012A>T	ENSP00000363563.4:p.Lys671Ile
ENST00000374448.8:c.2270A>T	ENSP00000363571.4:p.Lys757Ile
ENST00000416899.7:c.2246A>T	ENSP00000393608.3:p.Lys749Ile
NM_001166280.1:c.2012A>T	NP_001159752.1:p.Lys671Ile
NM_001166281.1:c.1982A>T	NP_001159753.1:p.Lys661Ile
NM_005592.3:c.2270A>T	NP_005583.1:p.Lys757Ile
XM_005251994.2:c.2300A>T	XP_005252051.1:p.Lys767Ile
XM_005251995.2:c.2276A>T	XP_005252052.1:p.Lys759Ile
XM_005251996.2:c.2246A>T	XP_005252053.1:p.Lys749Ile
XM_011518707.1:c.2330A>T	XP_011517009.1:p.Lys777Ile
XM_011518708.1:c.1034A>T	XP_011517010.1:p.Lys345Ile
XM_005251994.3:c.2300A>T	XP_005252051.1:p.Lys767Ile
XM_005251995.3:c.2276A>T	XP_005252052.1:p.Lys759Ile
XM_005251996.3:c.2246A>T	XP_005252053.1:p.Lys749Ile
XM_011518708.2:c.1034A>T	XP_011517010.1:p.Lys345Ile
XM_017014734.1:c.2036A>T	XP_016870223.1:p.Lys679Ile
NM_001166280.2:c.2012A>T	NP_001159752.1:p.Lys671Ile
NM_001166281.2:c.1982A>T	NP_001159753.1:p.Lys661Ile
NM_001369398.1:c.1010A>T	NP_001356327.1:p.Lys337Ile
NM_005592.4:c.2270A>T MANE Select	NP_005583.1:p.Lys757Ile