Canonical Allele Identifier: CA2335094989

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585058T= , CM000681.2:g.38585058T=	GRCh38
NC_000019.9:g.39075698T= , CM000681.1:g.39075698T=	GRCh37
NC_000019.8:g.43767538T=	NCBI36
NG_008866.1:g.156359T= , LRG_766:g.156359T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14762T= MANE Select	NP_000531.2:p.Phe4921=
ENST00000359596.8:c.14762T= MANE Select	ENSP00000352608.2:p.Phe4921=
NM_000540.2:c.14762T= , LRG_766t1:c.14762T=	NP_000531.2:p.Phe4921=
NM_001042723.1:c.14747T=	NP_001036188.1:p.Phe4916=
NM_001042723.2:c.14747T=	NP_001036188.1:p.Phe4916=
ENST00000355481.8:c.14747T=	ENSP00000347667.3:p.Phe4916=
ENST00000359596.7:c.14762T=	ENSP00000352608.2:p.Phe4921=
ENST00000360985.7:c.14744T=	ENSP00000354254.4:p.Phe4915=
ENST00000593677.2:c.1698T=
ENST00000688602.1:c.3095T=
ENST00000689936.1:c.3067T=
ENST00000692547.1:n.155T=
XM_006723317.1:c.14744T=	XP_006723380.1:p.Phe4915=
XM_006723317.2:c.14744T=	XP_006723380.1:p.Phe4915=
XM_006723319.1:c.14729T=	XP_006723382.1:p.Phe4910=
XM_006723319.2:c.14729T=	XP_006723382.1:p.Phe4910=
XM_011527204.1:c.14759T=	XP_011525506.1:p.Phe4920=
XM_011527205.1:c.14675T=	XP_011525507.1:p.Phe4892=
XM_011527205.2:c.14675T=	XP_011525507.1:p.Phe4892=