Canonical Allele Identifier: CA2584910926

Gene: RYR1

Linked Data

• gnomAD v4: 19-38579942-C-CCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579946_38579949dup , CM000681.2:g.38579946_38579949dup	GRCh38
NC_000019.9:g.39070586_39070589dup , CM000681.1:g.39070586_39070589dup	GRCh37
NC_000019.8:g.43762426_43762429dup	NCBI36
NG_008866.1:g.151247_151250dup , LRG_766:g.151247_151250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1301-36_1301-33dup
ENST00000688602.1:c.2698-36_2698-33dup
ENST00000689936.1:c.2670-36_2670-33dup
ENST00000359596.8:c.14365-36_14365-33dup MANE Select	ENSP00000352608.2:n.14365-36_14365-33dup
ENST00000355481.8:c.14350-36_14350-33dup	ENSP00000347667.3:n.14350-36_14350-33dup
ENST00000359596.7:c.14365-36_14365-33dup	ENSP00000352608.2:n.14365-36_14365-33dup
ENST00000360985.7:c.14347-36_14347-33dup	ENSP00000354254.4:n.14347-36_14347-33dup
NM_000540.2:c.14365-36_14365-33dup , LRG_766t1:c.14365-36_14365-33dup	NP_000531.2:n.14365-36_14365-33dup
NM_001042723.1:c.14350-36_14350-33dup	NP_001036188.1:n.14350-36_14350-33dup
XM_006723317.1:c.14347-36_14347-33dup	XP_006723380.1:n.14347-36_14347-33dup
XM_006723319.1:c.14332-36_14332-33dup	XP_006723382.1:n.14332-36_14332-33dup
XM_011527204.1:c.14362-36_14362-33dup	XP_011525506.1:n.14362-36_14362-33dup
XM_011527205.1:c.14278-36_14278-33dup	XP_011525507.1:n.14278-36_14278-33dup
XM_006723317.2:c.14347-36_14347-33dup	XP_006723380.1:n.14347-36_14347-33dup
XM_006723319.2:c.14332-36_14332-33dup	XP_006723382.1:n.14332-36_14332-33dup
XM_011527205.2:c.14278-36_14278-33dup	XP_011525507.1:n.14278-36_14278-33dup
NM_000540.3:c.14365-36_14365-33dup MANE Select	NP_000531.2:n.14365-36_14365-33dup
NM_001042723.2:c.14350-36_14350-33dup	NP_001036188.1:n.14350-36_14350-33dup