Canonical Allele Identifier: CA2335095575

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586150C= , CM000681.2:g.38586150C=	GRCh38
NC_000019.9:g.39076790C= , CM000681.1:g.39076790C=	GRCh37
NC_000019.8:g.43768630C=	NCBI36
NG_008866.1:g.157451C= , LRG_766:g.157451C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1864C=
ENST00000688602.1:c.3261C=
ENST00000689936.1:c.3233C=
ENST00000692547.1:n.321C=
ENST00000359596.8:c.14928C= MANE Select	ENSP00000352608.2:p.Phe4976=
ENST00000355481.8:c.14913C=	ENSP00000347667.3:p.Phe4971=
ENST00000359596.7:c.14928C=	ENSP00000352608.2:p.Phe4976=
ENST00000360985.7:c.14910C=	ENSP00000354254.4:p.Phe4970=
NM_000540.2:c.14928C= , LRG_766t1:c.14928C=	NP_000531.2:p.Phe4976=
NM_001042723.1:c.14913C=	NP_001036188.1:p.Phe4971=
XM_006723317.1:c.14910C=	XP_006723380.1:p.Phe4970=
XM_006723319.1:c.14895C=	XP_006723382.1:p.Phe4965=
XM_011527204.1:c.14925C=	XP_011525506.1:p.Phe4975=
XM_011527205.1:c.14841C=	XP_011525507.1:p.Phe4947=
XM_006723317.2:c.14910C=	XP_006723380.1:p.Phe4970=
XM_006723319.2:c.14895C=	XP_006723382.1:p.Phe4965=
XM_011527205.2:c.14841C=	XP_011525507.1:p.Phe4947=
NM_000540.3:c.14928C= MANE Select	NP_000531.2:p.Phe4976=
NM_001042723.2:c.14913C=	NP_001036188.1:p.Phe4971=