Canonical Allele Identifier: CA2335092254

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580003T= , CM000681.2:g.38580003T=	GRCh38
NC_000019.9:g.39070643T= , CM000681.1:g.39070643T=	GRCh37
NC_000019.8:g.43762483T=	NCBI36
NG_008866.1:g.151304T= , LRG_766:g.151304T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1322T=
ENST00000688602.1:c.2719T=
ENST00000689936.1:c.2691T=
ENST00000359596.8:c.14386T= MANE Select	ENSP00000352608.2:p.Tyr4796=
ENST00000355481.8:c.14371T=	ENSP00000347667.3:p.Tyr4791=
ENST00000359596.7:c.14386T=	ENSP00000352608.2:p.Tyr4796=
ENST00000360985.7:c.14368T=	ENSP00000354254.4:p.Tyr4790=
NM_000540.2:c.14386T= , LRG_766t1:c.14386T=	NP_000531.2:p.Tyr4796=
NM_001042723.1:c.14371T=	NP_001036188.1:p.Tyr4791=
XM_006723317.1:c.14368T=	XP_006723380.1:p.Tyr4790=
XM_006723319.1:c.14353T=	XP_006723382.1:p.Tyr4785=
XM_011527204.1:c.14383T=	XP_011525506.1:p.Tyr4795=
XM_011527205.1:c.14299T=	XP_011525507.1:p.Tyr4767=
XM_006723317.2:c.14368T=	XP_006723380.1:p.Tyr4790=
XM_006723319.2:c.14353T=	XP_006723382.1:p.Tyr4785=
XM_011527205.2:c.14299T=	XP_011525507.1:p.Tyr4767=
NM_000540.3:c.14386T= MANE Select	NP_000531.2:p.Tyr4796=
NM_001042723.2:c.14371T=	NP_001036188.1:p.Tyr4791=