Canonical Allele Identifier: CA2335092286

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580070C= , CM000681.2:g.38580070C=	GRCh38
NC_000019.9:g.39070710C= , CM000681.1:g.39070710C=	GRCh37
NC_000019.8:g.43762550C=	NCBI36
NG_008866.1:g.151371C= , LRG_766:g.151371C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1389C=
ENST00000688602.1:c.2786C=
ENST00000689936.1:c.2758C=
ENST00000359596.8:c.14453C= MANE Select	ENSP00000352608.2:p.Ala4818=
ENST00000355481.8:c.14438C=	ENSP00000347667.3:p.Ala4813=
ENST00000359596.7:c.14453C=	ENSP00000352608.2:p.Ala4818=
ENST00000360985.7:c.14435C=	ENSP00000354254.4:p.Ala4812=
NM_000540.2:c.14453C= , LRG_766t1:c.14453C=	NP_000531.2:p.Ala4818=
NM_001042723.1:c.14438C=	NP_001036188.1:p.Ala4813=
XM_006723317.1:c.14435C=	XP_006723380.1:p.Ala4812=
XM_006723319.1:c.14420C=	XP_006723382.1:p.Ala4807=
XM_011527204.1:c.14450C=	XP_011525506.1:p.Ala4817=
XM_011527205.1:c.14366C=	XP_011525507.1:p.Ala4789=
XM_006723317.2:c.14435C=	XP_006723380.1:p.Ala4812=
XM_006723319.2:c.14420C=	XP_006723382.1:p.Ala4807=
XM_011527205.2:c.14366C=	XP_011525507.1:p.Ala4789=
NM_000540.3:c.14453C= MANE Select	NP_000531.2:p.Ala4818=
NM_001042723.2:c.14438C=	NP_001036188.1:p.Ala4813=