Canonical Allele Identifier: CA2584911780

Gene: RYR1

Linked Data

• gnomAD v4: 19-38587264-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587264A>T , CM000681.2:g.38587264A>T	GRCh38
NC_000019.9:g.39077904A>T , CM000681.1:g.39077904A>T	GRCh37
NC_000019.8:g.43769744A>T	NCBI36
NG_008866.1:g.158565A>T , LRG_766:g.158565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+688A>T
ENST00000688602.1:c.3355-61A>T
ENST00000689936.1:c.3327-61A>T
ENST00000692547.1:n.415-61A>T
ENST00000359596.8:c.15022-61A>T MANE Select	ENSP00000352608.2:n.15022-61A>T
ENST00000355481.8:c.15007-61A>T	ENSP00000347667.3:n.15007-61A>T
ENST00000359596.7:c.15022-61A>T	ENSP00000352608.2:n.15022-61A>T
ENST00000360985.7:c.15004-61A>T	ENSP00000354254.4:n.15004-61A>T
NM_000540.2:c.15022-61A>T , LRG_766t1:c.15022-61A>T	NP_000531.2:n.15022-61A>T
NM_001042723.1:c.15007-61A>T	NP_001036188.1:n.15007-61A>T
XM_006723317.1:c.15004-61A>T	XP_006723380.1:n.15004-61A>T
XM_006723319.1:c.14989-61A>T	XP_006723382.1:n.14989-61A>T
XM_011527204.1:c.15019-61A>T	XP_011525506.1:n.15019-61A>T
XM_011527205.1:c.14935-61A>T	XP_011525507.1:n.14935-61A>T
XM_006723317.2:c.15004-61A>T	XP_006723380.1:n.15004-61A>T
XM_006723319.2:c.14989-61A>T	XP_006723382.1:n.14989-61A>T
XM_011527205.2:c.14935-61A>T	XP_011525507.1:n.14935-61A>T
NM_000540.3:c.15022-61A>T MANE Select	NP_000531.2:n.15022-61A>T
NM_001042723.2:c.15007-61A>T	NP_001036188.1:n.15007-61A>T