Canonical Allele Identifier: CA405690108

Gene: RYR1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584955C>G , CM000681.2:g.38584955C>G	GRCh38
NC_000019.9:g.39075595C>G , CM000681.1:g.39075595C>G	GRCh37
NC_000019.8:g.43767435C>G	NCBI36
NG_008866.1:g.156256C>G , LRG_766:g.156256C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1595C>G
ENST00000688602.1:c.2992C>G
ENST00000689936.1:c.2964C>G
ENST00000692547.1:n.52C>G
ENST00000359596.8:c.14659C>G MANE Select	ENSP00000352608.2:p.His4887Asp
ENST00000355481.8:c.14644C>G	ENSP00000347667.3:p.His4882Asp
ENST00000359596.7:c.14659C>G	ENSP00000352608.2:p.His4887Asp
ENST00000360985.7:c.14641C>G	ENSP00000354254.4:p.His4881Asp
NM_000540.2:c.14659C>G , LRG_766t1:c.14659C>G	NP_000531.2:p.His4887Asp
NM_001042723.1:c.14644C>G	NP_001036188.1:p.His4882Asp
XM_006723317.1:c.14641C>G	XP_006723380.1:p.His4881Asp
XM_006723319.1:c.14626C>G	XP_006723382.1:p.His4876Asp
XM_011527204.1:c.14656C>G	XP_011525506.1:p.His4886Asp
XM_011527205.1:c.14572C>G	XP_011525507.1:p.His4858Asp
XM_006723317.2:c.14641C>G	XP_006723380.1:p.His4881Asp
XM_006723319.2:c.14626C>G	XP_006723382.1:p.His4876Asp
XM_011527205.2:c.14572C>G	XP_011525507.1:p.His4858Asp
NM_000540.3:c.14659C>G MANE Select	NP_000531.2:p.His4887Asp
NM_001042723.2:c.14644C>G	NP_001036188.1:p.His4882Asp