Canonical Allele Identifier: CA2576827509

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2850116
• ClinVar RCV Id: RCV003757733

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579962_38579968del , CM000681.2:g.38579962_38579968del	GRCh38
NC_000019.9:g.39070602_39070608del , CM000681.1:g.39070602_39070608del	GRCh37
NC_000019.8:g.43762442_43762448del	NCBI36
NG_008866.1:g.151263_151269del , LRG_766:g.151263_151269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1301-20_1301-14del
ENST00000688602.1:c.2698-20_2698-14del
ENST00000689936.1:c.2670-20_2670-14del
ENST00000359596.8:c.14365-20_14365-14del MANE Select	ENSP00000352608.2:n.14365-20_14365-14del
ENST00000355481.8:c.14350-20_14350-14del	ENSP00000347667.3:n.14350-20_14350-14del
ENST00000359596.7:c.14365-20_14365-14del	ENSP00000352608.2:n.14365-20_14365-14del
ENST00000360985.7:c.14347-20_14347-14del	ENSP00000354254.4:n.14347-20_14347-14del
NM_000540.2:c.14365-20_14365-14del , LRG_766t1:c.14365-20_14365-14del	NP_000531.2:n.14365-20_14365-14del
NM_001042723.1:c.14350-20_14350-14del	NP_001036188.1:n.14350-20_14350-14del
XM_006723317.1:c.14347-20_14347-14del	XP_006723380.1:n.14347-20_14347-14del
XM_006723319.1:c.14332-20_14332-14del	XP_006723382.1:n.14332-20_14332-14del
XM_011527204.1:c.14362-20_14362-14del	XP_011525506.1:n.14362-20_14362-14del
XM_011527205.1:c.14278-20_14278-14del	XP_011525507.1:n.14278-20_14278-14del
XM_006723317.2:c.14347-20_14347-14del	XP_006723380.1:n.14347-20_14347-14del
XM_006723319.2:c.14332-20_14332-14del	XP_006723382.1:n.14332-20_14332-14del
XM_011527205.2:c.14278-20_14278-14del	XP_011525507.1:n.14278-20_14278-14del
NM_000540.3:c.14365-20_14365-14del MANE Select	NP_000531.2:n.14365-20_14365-14del
NM_001042723.2:c.14350-20_14350-14del	NP_001036188.1:n.14350-20_14350-14del