Canonical Allele Identifier: CA374475619

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110785532C>G , CM000671.2:g.110785532C>G	GRCh38
NC_000009.11:g.113547812C>G , CM000671.1:g.113547812C>G	GRCh37
NC_000009.10:g.112587633C>G	NCBI36
NG_016016.1:g.121762C>G
NG_016016.2:g.121742C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.1592C>G MANE Select	NP_005583.1:p.Ser531Ter
ENST00000374448.9:c.1592C>G MANE Select	ENSP00000363571.4:p.Ser531Ter
NM_001166280.1:c.1334C>G	NP_001159752.1:p.Ser445Ter
NM_001166280.2:c.1334C>G	NP_001159752.1:p.Ser445Ter
NM_001166281.1:c.1304C>G	NP_001159753.1:p.Ser435Ter
NM_001166281.2:c.1304C>G	NP_001159753.1:p.Ser435Ter
NM_001369398.1:c.332C>G	NP_001356327.1:p.Ser111Ter
NM_005592.3:c.1592C>G	NP_005583.1:p.Ser531Ter
ENST00000189978.10:c.1334C>G	ENSP00000189978.6:p.Ser445Ter
ENST00000374438.1:n.623C>G
ENST00000374440.7:c.1334C>G	ENSP00000363563.4:p.Ser445Ter
ENST00000374448.8:c.1592C>G	ENSP00000363571.4:p.Ser531Ter
ENST00000416899.7:c.1568C>G	ENSP00000393608.3:p.Ser523Ter
XM_005251994.2:c.1622C>G	XP_005252051.1:p.Ser541Ter
XM_005251994.3:c.1622C>G	XP_005252051.1:p.Ser541Ter
XM_005251995.2:c.1598C>G	XP_005252052.1:p.Ser533Ter
XM_005251995.3:c.1598C>G	XP_005252052.1:p.Ser533Ter
XM_005251996.2:c.1568C>G	XP_005252053.1:p.Ser523Ter
XM_005251996.3:c.1568C>G	XP_005252053.1:p.Ser523Ter
XM_011518707.1:c.1652C>G	XP_011517009.1:p.Ser551Ter
XM_011518708.1:c.356C>G	XP_011517010.1:p.Ser119Ter
XM_011518708.2:c.356C>G	XP_011517010.1:p.Ser119Ter
XM_017014734.1:c.1358C>G	XP_016870223.1:p.Ser453Ter
XR_001746892.1:n.120+71G>C