Canonical Allele Identifier: CA2335092270

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580032C= , CM000681.2:g.38580032C=	GRCh38
NC_000019.9:g.39070672C= , CM000681.1:g.39070672C=	GRCh37
NC_000019.8:g.43762512C=	NCBI36
NG_008866.1:g.151333C= , LRG_766:g.151333C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1351C=
ENST00000688602.1:c.2748C=
ENST00000689936.1:c.2720C=
ENST00000359596.8:c.14415C= MANE Select	ENSP00000352608.2:p.Tyr4805=
ENST00000355481.8:c.14400C=	ENSP00000347667.3:p.Tyr4800=
ENST00000359596.7:c.14415C=	ENSP00000352608.2:p.Tyr4805=
ENST00000360985.7:c.14397C=	ENSP00000354254.4:p.Tyr4799=
NM_000540.2:c.14415C= , LRG_766t1:c.14415C=	NP_000531.2:p.Tyr4805=
NM_001042723.1:c.14400C=	NP_001036188.1:p.Tyr4800=
XM_006723317.1:c.14397C=	XP_006723380.1:p.Tyr4799=
XM_006723319.1:c.14382C=	XP_006723382.1:p.Tyr4794=
XM_011527204.1:c.14412C=	XP_011525506.1:p.Tyr4804=
XM_011527205.1:c.14328C=	XP_011525507.1:p.Tyr4776=
XM_006723317.2:c.14397C=	XP_006723380.1:p.Tyr4799=
XM_006723319.2:c.14382C=	XP_006723382.1:p.Tyr4794=
XM_011527205.2:c.14328C=	XP_011525507.1:p.Tyr4776=
NM_000540.3:c.14415C= MANE Select	NP_000531.2:p.Tyr4805=
NM_001042723.2:c.14400C=	NP_001036188.1:p.Tyr4800=